Materiały źródłowe

• #1 Craniosynostosis – Symptoms and causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/craniosynostosis/symptoms-causes/syc-20354513

  Craniosynostosis (kray-nee-o-sin-os-TOE-sis) is a disorder present at birth in which one or more of the fibrous joints between the bones of your baby’s skull (cranial sutures) close prematurely (fuse), before your baby’s brain is fully formed. Brain growth continues, giving the head a misshapen appearance. […] In rare cases, craniosynostosis is caused by certain genetic syndromes (syndromic craniosynostosis). […] Often the cause of craniosynostosis is not known, but sometimes it’s related to genetic disorders. […] Nonsyndromic craniosynostosis is the most common type of craniosynostosis. Its cause is unknown, although it’s thought to be a combination of genes and environmental factors. […] Syndromic craniosynostosis is caused by certain genetic syndromes, such as Apert syndrome, Pfeiffer syndrome or Crouzon syndrome, which can affect a baby’s skull development. These syndromes usually also include other physical features and health problems.

• #2 Craniosynostosis | Causes, Symptoms, Types & Treatment | CHOC

  https://choc.org/neuroscience/craniosynostosis/

  Craniosynostosis is a condition in which the sutures in a child’s skull close too early, causing problems with head growth. Premature closure of the sutures may also cause the pressure inside of the head to increase, which can affect brain development. […] The cause of craniosynostosis is often unknown but can be related to genetic disorders or inherited genetically. It occurs in one out of 2,000 live births and affects males slightly more often than females. […] The key to treating craniosynostosis is early detection and treatment. Some forms of craniosynostosis can affect the brain and its development. The degree of the problems depends on the severity of the craniosynostosis, the number of sutures that are fused, and the presence of brain or other organ system problems that could affect the child.

• #3 Familial incidence and associated symptoms in a population of individuals with nonsyndromic craniosynostosis | Genetics in Medicine

  https://www.nature.com/articles/gim2013134

  Craniosynostosis is a common cranial malformation occurring in 1 per 2,000-2,500 births. Isolated defects (nonsyndromic) occur in ~75% of cases and are thought to have multifactorial etiology. It is believed that each suture synostosis is a distinct disease, with varying phenotypes and recurrence rates. […] The precise cause, factors, and molecular mechanisms that cause nonsyndromic CS are not fully understood, although there is evidence that genetic factors play a role. A genetic role is suggested due to the higher rate of concordance in monozygotic compared with dizygotic twins (30 vs. 0% in sagittal nonsyndromic CS; and 43 vs. 5%, in metopic CS), increased male-to-female ratio in metopic and sagittal CS, and higher recurrence risk in affected families. […] It has been previously hypothesized that there is a sibling recurrence risk of 2% for sagittal and metopic synostosis, 5% for unicoronal synostosis, and 10% for bicoronal and multisuture CS.

• #4 Craniosynostosis – Symptoms and causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/craniosynostosis/symptoms-causes/syc-20354513

  Craniosynostosis (kray-nee-o-sin-os-TOE-sis) is a disorder present at birth in which one or more of the fibrous joints between the bones of your baby’s skull (cranial sutures) close prematurely (fuse), before your baby’s brain is fully formed. Brain growth continues, giving the head a misshapen appearance. […] In rare cases, craniosynostosis is caused by certain genetic syndromes (syndromic craniosynostosis). […] Often the cause of craniosynostosis is not known, but sometimes it’s related to genetic disorders. […] Nonsyndromic craniosynostosis is the most common type of craniosynostosis. Its cause is unknown, although it’s thought to be a combination of genes and environmental factors. […] Syndromic craniosynostosis is caused by certain genetic syndromes, such as Apert syndrome, Pfeiffer syndrome or Crouzon syndrome, which can affect a baby’s skull development. These syndromes usually also include other physical features and health problems.

• #5 Craniosynostosis – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK544366/

  Craniosynostosis occurs due to the premature in-utero fusion of one or more cranial sutures. […] Almost 20% of all craniosynostoses have a genetic basis, most of which are inherited in an autosomal dominant fashion. […] Roughly 86% of cases involve a single-gene mutation, whereas 15% are linked to chromosomal abnormalities. […] The most common genes affected in craniosynostosis are those in the fibroblast growth factor receptor (FGFR) pathway. […] Genetic factors: Around 15% of SSC cases involve causal variants in 29 genes, with mutations being autosomal dominant in 8% of cases. […] Some of the risk factors identified to contribute to the development of craniosynostosis include: Environmental factors: Advanced parental age, maternal smoking (15 cigarettes/day), in vitro fertilization, and specific medications, such as valproic acid, nitrofurantoin, and sertraline. […] Thyroid dysfunction: Maternal thyroid dysfunction increases the risk of single-suture synostosis, particularly affecting the sagittal suture.

• #6 Recently-identified genetic forms of craniosynostosis | Great Ormond Street Hospital

  https://www.gosh.nhs.uk/conditions-and-treatments/conditions-we-treat/new-genetic-forms-craniosynostosis/

  Craniosynostosis is a condition where the plates of bone that make up the skull fuse too early, leading to a misshapen head. […] In the past few years, researchers have identified two new genetic mutations that cause craniosynostosis. […] Around 25 per cent of all cases of craniosynostosis are thought to have a genetic basis. In many cases, a mutation (change) of a specific gene leads to a child developing craniosynostosis in the womb. […] Research has identified two new genetic mutations on the genes called ERF and TCF12. […] Gene mutations can be passed on from parent to child but in many cases develops sporadically (out of the blue). […] As these two new genetic mutations are recently identified, it is possible that children with the mutations have previously been diagnosed with other forms of craniosynostosis.

• #7 Craniosynostosis – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK544366/

  Craniosynostosis occurs due to the premature in-utero fusion of one or more cranial sutures. […] Almost 20% of all craniosynostoses have a genetic basis, most of which are inherited in an autosomal dominant fashion. […] Roughly 86% of cases involve a single-gene mutation, whereas 15% are linked to chromosomal abnormalities. […] The most common genes affected in craniosynostosis are those in the fibroblast growth factor receptor (FGFR) pathway. […] Genetic factors: Around 15% of SSC cases involve causal variants in 29 genes, with mutations being autosomal dominant in 8% of cases. […] Some of the risk factors identified to contribute to the development of craniosynostosis include: Environmental factors: Advanced parental age, maternal smoking (15 cigarettes/day), in vitro fertilization, and specific medications, such as valproic acid, nitrofurantoin, and sertraline. […] Thyroid dysfunction: Maternal thyroid dysfunction increases the risk of single-suture synostosis, particularly affecting the sagittal suture.

• #8 Craniosynostosis – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK544366/

  Craniosynostosis occurs due to the premature in-utero fusion of one or more cranial sutures. […] Almost 20% of all craniosynostoses have a genetic basis, most of which are inherited in an autosomal dominant fashion. […] Roughly 86% of cases involve a single-gene mutation, whereas 15% are linked to chromosomal abnormalities. […] The most common genes affected in craniosynostosis are those in the fibroblast growth factor receptor (FGFR) pathway. […] Genetic factors: Around 15% of SSC cases involve causal variants in 29 genes, with mutations being autosomal dominant in 8% of cases. […] Some of the risk factors identified to contribute to the development of craniosynostosis include: Environmental factors: Advanced parental age, maternal smoking (15 cigarettes/day), in vitro fertilization, and specific medications, such as valproic acid, nitrofurantoin, and sertraline. […] Thyroid dysfunction: Maternal thyroid dysfunction increases the risk of single-suture synostosis, particularly affecting the sagittal suture.

• #9 Craniosynostosis | European Journal of Human Genetics

  https://www.nature.com/articles/ejhg2010235

  As well as being associated with syndromes, some clinically non-syndromic synostosis (usually affecting the coronal suture) can be caused by single gene mutations, particularly the Pro250Arg mutation in FGFR3. […] In a recent analysis of a 10-year prospective cohort of craniosynostosis presenting to our unit, a genetic diagnosis was achieved in 21% of cases, comprising 86% single gene disorders and 15% chromosome abnormalities (one patient had both). […] The genes most frequently mutated were FGFR2 (32% of all genetic cases), FGFR3 (25%), TWIST1 (19%) and EFNB1 (7%). […] The heterozygous FGFR1 mutation encoding Pro252Arg occurs at the equivalent position in FGFR1 to the Apert (FGFR2) and Muenke (FGFR3) mutations. However it is an unusual cause of Pfeiffer syndrome accounting for fewer than 10% of cases. […] A wide variety of chromosome abnormalities have been associated with craniosynostosis, many in single cases only. The clearest causal link is with deletions of 7p21.1, which includes the TWIST1 gene.

• #10 Craniosynostosis | European Journal of Human Genetics

  https://www.nature.com/articles/ejhg2010235

  As well as being associated with syndromes, some clinically non-syndromic synostosis (usually affecting the coronal suture) can be caused by single gene mutations, particularly the Pro250Arg mutation in FGFR3. […] In a recent analysis of a 10-year prospective cohort of craniosynostosis presenting to our unit, a genetic diagnosis was achieved in 21% of cases, comprising 86% single gene disorders and 15% chromosome abnormalities (one patient had both). […] The genes most frequently mutated were FGFR2 (32% of all genetic cases), FGFR3 (25%), TWIST1 (19%) and EFNB1 (7%). […] The heterozygous FGFR1 mutation encoding Pro252Arg occurs at the equivalent position in FGFR1 to the Apert (FGFR2) and Muenke (FGFR3) mutations. However it is an unusual cause of Pfeiffer syndrome accounting for fewer than 10% of cases. […] A wide variety of chromosome abnormalities have been associated with craniosynostosis, many in single cases only. The clearest causal link is with deletions of 7p21.1, which includes the TWIST1 gene.

• #11 Craniosynostosis | European Journal of Human Genetics

  https://www.nature.com/articles/ejhg2010235

  As well as being associated with syndromes, some clinically non-syndromic synostosis (usually affecting the coronal suture) can be caused by single gene mutations, particularly the Pro250Arg mutation in FGFR3. […] In a recent analysis of a 10-year prospective cohort of craniosynostosis presenting to our unit, a genetic diagnosis was achieved in 21% of cases, comprising 86% single gene disorders and 15% chromosome abnormalities (one patient had both). […] The genes most frequently mutated were FGFR2 (32% of all genetic cases), FGFR3 (25%), TWIST1 (19%) and EFNB1 (7%). […] The heterozygous FGFR1 mutation encoding Pro252Arg occurs at the equivalent position in FGFR1 to the Apert (FGFR2) and Muenke (FGFR3) mutations. However it is an unusual cause of Pfeiffer syndrome accounting for fewer than 10% of cases. […] A wide variety of chromosome abnormalities have been associated with craniosynostosis, many in single cases only. The clearest causal link is with deletions of 7p21.1, which includes the TWIST1 gene.

• #12 Craniosynostosis | European Journal of Human Genetics

  https://www.nature.com/articles/ejhg2010235

  As well as being associated with syndromes, some clinically non-syndromic synostosis (usually affecting the coronal suture) can be caused by single gene mutations, particularly the Pro250Arg mutation in FGFR3. […] In a recent analysis of a 10-year prospective cohort of craniosynostosis presenting to our unit, a genetic diagnosis was achieved in 21% of cases, comprising 86% single gene disorders and 15% chromosome abnormalities (one patient had both). […] The genes most frequently mutated were FGFR2 (32% of all genetic cases), FGFR3 (25%), TWIST1 (19%) and EFNB1 (7%). […] The heterozygous FGFR1 mutation encoding Pro252Arg occurs at the equivalent position in FGFR1 to the Apert (FGFR2) and Muenke (FGFR3) mutations. However it is an unusual cause of Pfeiffer syndrome accounting for fewer than 10% of cases. […] A wide variety of chromosome abnormalities have been associated with craniosynostosis, many in single cases only. The clearest causal link is with deletions of 7p21.1, which includes the TWIST1 gene.

• #13 Craniosynostosis | European Journal of Human Genetics

  https://www.nature.com/articles/ejhg2010235

  As well as being associated with syndromes, some clinically non-syndromic synostosis (usually affecting the coronal suture) can be caused by single gene mutations, particularly the Pro250Arg mutation in FGFR3. […] In a recent analysis of a 10-year prospective cohort of craniosynostosis presenting to our unit, a genetic diagnosis was achieved in 21% of cases, comprising 86% single gene disorders and 15% chromosome abnormalities (one patient had both). […] The genes most frequently mutated were FGFR2 (32% of all genetic cases), FGFR3 (25%), TWIST1 (19%) and EFNB1 (7%). […] The heterozygous FGFR1 mutation encoding Pro252Arg occurs at the equivalent position in FGFR1 to the Apert (FGFR2) and Muenke (FGFR3) mutations. However it is an unusual cause of Pfeiffer syndrome accounting for fewer than 10% of cases. […] A wide variety of chromosome abnormalities have been associated with craniosynostosis, many in single cases only. The clearest causal link is with deletions of 7p21.1, which includes the TWIST1 gene.

• #14 Recently-identified genetic forms of craniosynostosis | Great Ormond Street Hospital

  https://www.gosh.nhs.uk/conditions-and-treatments/conditions-we-treat/new-genetic-forms-craniosynostosis/

  Craniosynostosis is a condition where the plates of bone that make up the skull fuse too early, leading to a misshapen head. […] In the past few years, researchers have identified two new genetic mutations that cause craniosynostosis. […] Around 25 per cent of all cases of craniosynostosis are thought to have a genetic basis. In many cases, a mutation (change) of a specific gene leads to a child developing craniosynostosis in the womb. […] Research has identified two new genetic mutations on the genes called ERF and TCF12. […] Gene mutations can be passed on from parent to child but in many cases develops sporadically (out of the blue). […] As these two new genetic mutations are recently identified, it is possible that children with the mutations have previously been diagnosed with other forms of craniosynostosis.

• #15 Craniosynostosis: An epistatic explanation | eLife

  https://elifesciences.org/articles/21162

  It has been suggested that the sporadic occurrence of non-syndromic craniosynostosis is due to de novo (non-inherited) genetic mutations and/or because these mutations do not consistently produce the same symptoms. […] Timberlake et al. found that SMAD6 mutations produce craniosynostosis in only 9% of cases. However, when an individual has both the SMAD6 mutation and the BMP2 risk allele (which on its own leads to the disorder in just 0.08% of cases), craniosynostosis occurs 100% of the time. Thus, these findings clearly indicate that epistatic interactions interactions where the effect produced by a given gene depends on the presence of other genes of rare (SMAD6) and common (BMP2) gene variants are a defining feature of the cause of midline craniosynostosis. […] Timberlake et al. also show that there is no epistatic interaction between the mutant SMAD6 variant and the other mutation that is known to be associated with midline craniosynostosis (a single nucleotide polymorphism in BBS9; Justice et al., 2012). This finding further supports the hypothesis that an increase in BMP signaling is likely to underlie the symptoms of craniosynostosis.

• #16 Genetic Causes of Craniosynostosis: An Update

  https://pmc.ncbi.nlm.nih.gov/articles/PMC6422124/

  In 2015, a total of 57 human genes were described for which there had been evidence that mutations were causally related to craniosynostosis (based on at least 2 affected individuals with congruent phenotypes). These genes can be divided into 2 broad groups. First, a group of 20 genes causing syndromes that are frequently associated with craniosynostosis (50%; core genes). Second, a group of genes that cause disorders that are probably causally associated with craniosynostosis but only in a minority of the cases. […] Besides these single-gene origins, another large group is caused by chromosomal rearrangements (approximately 13%). […] Many of the genes act in previously described pathways that are involved in the biology of cranial suture development, such as the Sonic hedgehog pathway, WNT-signaling, NOTCH/EPH pathway, the RAS/MAPK pathway, Indian hedgehog, Retinoic acid, and/or the STAT3 pathway. These are classical pathways that are involved in early embryonic development. But also, many of the gene defects may act through causing perturbations in osteogenesis, such as filaminopathies, hypophosphatasia, mucopolysaccharidoses, osteosclerosis, and pycnodysostosis. […] In conclusion, the phenotypes associated with newly identified mutations are less specific and some are very rare. This, in combination with the increasing number of potential genetic causes and the possibility of digenic disease mechanisms indicate the importance of next-generation sequencing.

• #17 Syndromic Craniosynostosis | Children’s Hospital of Philadelphia

  https://www.chop.edu/conditions-diseases/syndromic-craniosynostosis

  Craniosynostosis is a condition in which the sutures (growth seams) in an infants skull close too early, causing problems with normal brain and skull growth. […] Syndromic craniosynostosis is caused by an inherited or genetic condition and characterized by a collection of distinct facial and body anomalies that have a common cause. […] Syndromic craniosynostosis is most commonly found in: Apert syndrome, Crouzon syndrome, Muenke syndrome, Pfeiffer syndrome, Saethre-Chotzen syndrome. […] Craniosynostosis generally comes in two patterns. Theres the syndromic type in which theres a genetic mutation, or an inheritable condition that causes a repeatable pattern. […] In syndromic-synostosis, these are typically genetic in origin, although they may be a new mutation to a new family. […] There are probably close to 90 syndromes associated with heritable forms of craniosynostosis.

• #18 Syndromic Craniosynostosis | Children’s Hospital of Philadelphia

  https://www.chop.edu/conditions-diseases/syndromic-craniosynostosis

  Craniosynostosis is a condition in which the sutures (growth seams) in an infants skull close too early, causing problems with normal brain and skull growth. […] Syndromic craniosynostosis is caused by an inherited or genetic condition and characterized by a collection of distinct facial and body anomalies that have a common cause. […] Syndromic craniosynostosis is most commonly found in: Apert syndrome, Crouzon syndrome, Muenke syndrome, Pfeiffer syndrome, Saethre-Chotzen syndrome. […] Craniosynostosis generally comes in two patterns. Theres the syndromic type in which theres a genetic mutation, or an inheritable condition that causes a repeatable pattern. […] In syndromic-synostosis, these are typically genetic in origin, although they may be a new mutation to a new family. […] There are probably close to 90 syndromes associated with heritable forms of craniosynostosis.

• #19 Craniosynostosis Syndromes – EyeWiki

  https://eyewiki.org/Craniosynostosis_Syndromes

  Craniosynostosis is defined as a premature fusion of one or more cranial sutures during intrauterine or postnatal development. […] Although the majority are sporadic, craniosynostosis syndromes may be associated with environmental and genetic factors. […] There are close to 200 known syndromes related to craniosynostosis. These syndromes are primarily differentiated by the type of suture involved and gene mutation involved. […] Craniosynostosis syndromes often occur spontaneously due to a de novo autosomal dominant mutation or they may be inherited by either an autosomal dominant or autosomal recessive manner. […] Many of the craniosynostosis syndromes are caused by mutations in the FGFR1, FGFR2, and FGFR3, TWIST1 and EFNB1 genes. […] The FGFRs (fibroblast growth factor receptors) are normally responsible for suppressing excessive limb growth, therefore, a mutation in the FGFR gene is hypermorphic, as it excessively increases its genes product function.

• #20 Craniosynostosis | Symptoms, Diagnosis & Treatment

  https://www.cincinnatichildrens.org/health/c/craniosynostosis

  Craniosynostosis, or simply synostosis, is the early growing together (or fusion) of two or more bones of the skull. […] Craniosynostosis can happen on its own without other related abnormalities (non-syndromic). It may stem from an underlying genetic condition (syndromic). The type of craniosynostosis a child has depends on which skull sutures fuse. The childs head shape looks different based on which sutures fuse. […] Sometimes craniosynostosis is associated with an underlying genetic condition. These conditions can include: […] Crouzon’s Syndrome: This is the most common syndrome related to craniosynostosis. It is associated with bilateral coronal craniosynostosis, midfacial abnormalities, forward protrusion of the eyes and airway obstruction. […] Apert’s Syndrome: This syndrome is also related to bilateral coronal craniosynostosis, with a tall and shortened head.

• #21 Syndromic Craniosynostosis | Children’s Hospital of Philadelphia

  https://www.chop.edu/conditions-diseases/syndromic-craniosynostosis

  Craniosynostosis is a condition in which the sutures (growth seams) in an infants skull close too early, causing problems with normal brain and skull growth. […] Syndromic craniosynostosis is caused by an inherited or genetic condition and characterized by a collection of distinct facial and body anomalies that have a common cause. […] Syndromic craniosynostosis is most commonly found in: Apert syndrome, Crouzon syndrome, Muenke syndrome, Pfeiffer syndrome, Saethre-Chotzen syndrome. […] Craniosynostosis generally comes in two patterns. Theres the syndromic type in which theres a genetic mutation, or an inheritable condition that causes a repeatable pattern. […] In syndromic-synostosis, these are typically genetic in origin, although they may be a new mutation to a new family. […] There are probably close to 90 syndromes associated with heritable forms of craniosynostosis.

• #22 Craniosynostosis | Symptoms, Diagnosis & Treatment

  https://www.cincinnatichildrens.org/health/c/craniosynostosis

  Craniosynostosis, or simply synostosis, is the early growing together (or fusion) of two or more bones of the skull. […] Craniosynostosis can happen on its own without other related abnormalities (non-syndromic). It may stem from an underlying genetic condition (syndromic). The type of craniosynostosis a child has depends on which skull sutures fuse. The childs head shape looks different based on which sutures fuse. […] Sometimes craniosynostosis is associated with an underlying genetic condition. These conditions can include: […] Crouzon’s Syndrome: This is the most common syndrome related to craniosynostosis. It is associated with bilateral coronal craniosynostosis, midfacial abnormalities, forward protrusion of the eyes and airway obstruction. […] Apert’s Syndrome: This syndrome is also related to bilateral coronal craniosynostosis, with a tall and shortened head.

• #23 Craniosynostosis | Symptoms, Diagnosis & Treatment

  https://www.cincinnatichildrens.org/health/c/craniosynostosis

  Craniosynostosis, or simply synostosis, is the early growing together (or fusion) of two or more bones of the skull. […] Craniosynostosis can happen on its own without other related abnormalities (non-syndromic). It may stem from an underlying genetic condition (syndromic). The type of craniosynostosis a child has depends on which skull sutures fuse. The childs head shape looks different based on which sutures fuse. […] Sometimes craniosynostosis is associated with an underlying genetic condition. These conditions can include: […] Crouzon’s Syndrome: This is the most common syndrome related to craniosynostosis. It is associated with bilateral coronal craniosynostosis, midfacial abnormalities, forward protrusion of the eyes and airway obstruction. […] Apert’s Syndrome: This syndrome is also related to bilateral coronal craniosynostosis, with a tall and shortened head.

• #24 Craniosynostosis | Symptoms, Diagnosis & Treatment

  https://www.cincinnatichildrens.org/health/c/craniosynostosis

  Carpenter’s Syndrome: This syndrome is commonly associated with lambdoid and sagittal synostosis. […] Pfeiffer’s Syndrome: This syndrome is also characterized by craniosynostosis and limb abnormalities. […] Saethre-Chotzen Syndrome: This is a congenital syndrome thats often associated with craniosynostosis and limb abnormalities. […] Craniosynostosis is treated by surgery that opens the fused sutures. This creates space for brain growth.

• #25 Skull Anomaly (Craniosynostosis) | OHSU

  https://www.ohsu.edu/doernbecher/skull-anomaly-craniosynostosis

  Our providers are national leaders in diagnosing and treating craniosynostosis. This condition causes an infants skull to grow in an unusual shape. […] We dont know for sure what causes craniosynostosis. There are some factors that may increase your risk of having a child with craniosynostosis: […] Having thyroid disease. […] Taking certain medications, including the fertility medication clomiphene citrate, just before or early in pregnancy. […] Having a genetic condition that makes your baby more likely to have craniosynostosis involving multiple sutures. […] In most cases, syndromic craniosynostosis is linked to a genetic condition. It can cause mild or severe developmental problems. […] More than 150 syndromes are linked to craniosynostosis. The most common are Apert, Carpenter, Crouzon, Muenke, Pfeiffer and Saethre-Chotzen syndromes.

• #26 Craniosynostosis | Symptoms, Diagnosis & Treatment

  https://www.cincinnatichildrens.org/health/c/craniosynostosis

  Carpenter’s Syndrome: This syndrome is commonly associated with lambdoid and sagittal synostosis. […] Pfeiffer’s Syndrome: This syndrome is also characterized by craniosynostosis and limb abnormalities. […] Saethre-Chotzen Syndrome: This is a congenital syndrome thats often associated with craniosynostosis and limb abnormalities. […] Craniosynostosis is treated by surgery that opens the fused sutures. This creates space for brain growth.

• #27 Craniosynostosis | Symptoms, Diagnosis & Treatment

  https://www.cincinnatichildrens.org/health/c/craniosynostosis

  Carpenter’s Syndrome: This syndrome is commonly associated with lambdoid and sagittal synostosis. […] Pfeiffer’s Syndrome: This syndrome is also characterized by craniosynostosis and limb abnormalities. […] Saethre-Chotzen Syndrome: This is a congenital syndrome thats often associated with craniosynostosis and limb abnormalities. […] Craniosynostosis is treated by surgery that opens the fused sutures. This creates space for brain growth.

• #28 Craniosynostosis Syndromes – EyeWiki

  https://eyewiki.org/Craniosynostosis_Syndromes

  Craniosynostosis is defined as a premature fusion of one or more cranial sutures during intrauterine or postnatal development. […] Although the majority are sporadic, craniosynostosis syndromes may be associated with environmental and genetic factors. […] There are close to 200 known syndromes related to craniosynostosis. These syndromes are primarily differentiated by the type of suture involved and gene mutation involved. […] Craniosynostosis syndromes often occur spontaneously due to a de novo autosomal dominant mutation or they may be inherited by either an autosomal dominant or autosomal recessive manner. […] Many of the craniosynostosis syndromes are caused by mutations in the FGFR1, FGFR2, and FGFR3, TWIST1 and EFNB1 genes. […] The FGFRs (fibroblast growth factor receptors) are normally responsible for suppressing excessive limb growth, therefore, a mutation in the FGFR gene is hypermorphic, as it excessively increases its genes product function.

• #29

  https://www.wesleymc.com/specialties/maternal-fetal-care/craniosynostosis

  Craniosynostosis occurs sporadically, however, it is a feature of several genetic syndromes that have varying inheritance patterns and chances of reoccurrence. […] If a child does have craniosynostosis, the child and his or her family members may be examined for signs of a cause of the genetic syndrome, such as limb, ear or cardiovascular abnormalities. […] Craniosynostosis may be inherited in one of two ways: […] Autosomal recessive means that two copies of an abnormal gene, one inherited from each parent, are necessary to create the condition. Carrier parents have a 25 percent chance in each pregnancy to have a child with craniosynostosis. […] Autosomal dominant means that one gene is necessary to create the condition and the gene is passed from one parent to the child with a 50 percent chance of occurrence in each pregnancy.

• #30 Familial incidence and associated symptoms in a population of individuals with nonsyndromic craniosynostosis | Genetics in Medicine

  https://www.nature.com/articles/gim2013134

  Craniosynostosis is a common cranial malformation occurring in 1 per 2,000-2,500 births. Isolated defects (nonsyndromic) occur in ~75% of cases and are thought to have multifactorial etiology. It is believed that each suture synostosis is a distinct disease, with varying phenotypes and recurrence rates. […] The precise cause, factors, and molecular mechanisms that cause nonsyndromic CS are not fully understood, although there is evidence that genetic factors play a role. A genetic role is suggested due to the higher rate of concordance in monozygotic compared with dizygotic twins (30 vs. 0% in sagittal nonsyndromic CS; and 43 vs. 5%, in metopic CS), increased male-to-female ratio in metopic and sagittal CS, and higher recurrence risk in affected families. […] It has been previously hypothesized that there is a sibling recurrence risk of 2% for sagittal and metopic synostosis, 5% for unicoronal synostosis, and 10% for bicoronal and multisuture CS.

• #31 Genetic Causes of Craniosynostosis: An Update

  https://pmc.ncbi.nlm.nih.gov/articles/PMC6422124/

  In 1993, Jabs et al. were the first to describe a genetic origin of craniosynostosis. Since this discovery, the genetic causes of the most common syndromes have been described. In 2015, a total of 57 human genes were reported for which there had been evidence that mutations were causally related to craniosynostosis. Craniosynostosis can be isolated, without any additional anomalies, or as part of a syndrome, often caused by a genetic alteration. A detectable genetic cause is more likely if coronal suture or multiple suture synostosis is observed, if a patient shows symptoms of growth or developmental retardation, and/or if a patient shows other congenital anomalies. Unlike syndromic craniosynostosis, isolated craniosynostosis probably is a complex trait, likely arising from a combination of polygenic influences and epigenetic factors.

• #32 Familial incidence and associated symptoms in a population of individuals with nonsyndromic craniosynostosis | Genetics in Medicine

  https://www.nature.com/articles/gim2013134

  Craniosynostosis is a common cranial malformation occurring in 1 per 2,000-2,500 births. Isolated defects (nonsyndromic) occur in ~75% of cases and are thought to have multifactorial etiology. It is believed that each suture synostosis is a distinct disease, with varying phenotypes and recurrence rates. […] The precise cause, factors, and molecular mechanisms that cause nonsyndromic CS are not fully understood, although there is evidence that genetic factors play a role. A genetic role is suggested due to the higher rate of concordance in monozygotic compared with dizygotic twins (30 vs. 0% in sagittal nonsyndromic CS; and 43 vs. 5%, in metopic CS), increased male-to-female ratio in metopic and sagittal CS, and higher recurrence risk in affected families. […] It has been previously hypothesized that there is a sibling recurrence risk of 2% for sagittal and metopic synostosis, 5% for unicoronal synostosis, and 10% for bicoronal and multisuture CS.

• #33 Familial incidence and associated symptoms in a population of individuals with nonsyndromic craniosynostosis | Genetics in Medicine

  https://www.nature.com/articles/gim2013134

  Craniosynostosis is a common cranial malformation occurring in 1 per 2,000-2,500 births. Isolated defects (nonsyndromic) occur in ~75% of cases and are thought to have multifactorial etiology. It is believed that each suture synostosis is a distinct disease, with varying phenotypes and recurrence rates. […] The precise cause, factors, and molecular mechanisms that cause nonsyndromic CS are not fully understood, although there is evidence that genetic factors play a role. A genetic role is suggested due to the higher rate of concordance in monozygotic compared with dizygotic twins (30 vs. 0% in sagittal nonsyndromic CS; and 43 vs. 5%, in metopic CS), increased male-to-female ratio in metopic and sagittal CS, and higher recurrence risk in affected families. […] It has been previously hypothesized that there is a sibling recurrence risk of 2% for sagittal and metopic synostosis, 5% for unicoronal synostosis, and 10% for bicoronal and multisuture CS.

• #34 Craniosynostosis – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK544366/

  Craniosynostosis occurs due to the premature in-utero fusion of one or more cranial sutures. […] Almost 20% of all craniosynostoses have a genetic basis, most of which are inherited in an autosomal dominant fashion. […] Roughly 86% of cases involve a single-gene mutation, whereas 15% are linked to chromosomal abnormalities. […] The most common genes affected in craniosynostosis are those in the fibroblast growth factor receptor (FGFR) pathway. […] Genetic factors: Around 15% of SSC cases involve causal variants in 29 genes, with mutations being autosomal dominant in 8% of cases. […] Some of the risk factors identified to contribute to the development of craniosynostosis include: Environmental factors: Advanced parental age, maternal smoking (15 cigarettes/day), in vitro fertilization, and specific medications, such as valproic acid, nitrofurantoin, and sertraline. […] Thyroid dysfunction: Maternal thyroid dysfunction increases the risk of single-suture synostosis, particularly affecting the sagittal suture.

• #35 Craniosynostosis – Wikipedia

  https://en.wikipedia.org/wiki/Craniosynostosis

  Environmental factors refer for example to maternal smoking and the maternal exposure to amine-containing drugs. […] Hyperthyroid induced craniosynostosis is a hormone mediated premature closure. […] In 6 to 11% of the children born with coronal synostosis, more often involving the bilateral cases than unilateral, other members of the family have been reported that were also born with the same condition. […] This finding is highly suggestive of a genetic cause, which has possibly been found in the fibroblast growth factor receptor 3 (FGFR3) and TWIST genes. […] A relation between the mutations in these genes and craniosynostosis is therefore possible.

• #36 Craniosynostosis – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK544366/

  Craniosynostosis occurs due to the premature in-utero fusion of one or more cranial sutures. […] Almost 20% of all craniosynostoses have a genetic basis, most of which are inherited in an autosomal dominant fashion. […] Roughly 86% of cases involve a single-gene mutation, whereas 15% are linked to chromosomal abnormalities. […] The most common genes affected in craniosynostosis are those in the fibroblast growth factor receptor (FGFR) pathway. […] Genetic factors: Around 15% of SSC cases involve causal variants in 29 genes, with mutations being autosomal dominant in 8% of cases. […] Some of the risk factors identified to contribute to the development of craniosynostosis include: Environmental factors: Advanced parental age, maternal smoking (15 cigarettes/day), in vitro fertilization, and specific medications, such as valproic acid, nitrofurantoin, and sertraline. […] Thyroid dysfunction: Maternal thyroid dysfunction increases the risk of single-suture synostosis, particularly affecting the sagittal suture.

• #37 Craniosynostosis – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK544366/

  Craniosynostosis occurs due to the premature in-utero fusion of one or more cranial sutures. […] Almost 20% of all craniosynostoses have a genetic basis, most of which are inherited in an autosomal dominant fashion. […] Roughly 86% of cases involve a single-gene mutation, whereas 15% are linked to chromosomal abnormalities. […] The most common genes affected in craniosynostosis are those in the fibroblast growth factor receptor (FGFR) pathway. […] Genetic factors: Around 15% of SSC cases involve causal variants in 29 genes, with mutations being autosomal dominant in 8% of cases. […] Some of the risk factors identified to contribute to the development of craniosynostosis include: Environmental factors: Advanced parental age, maternal smoking (15 cigarettes/day), in vitro fertilization, and specific medications, such as valproic acid, nitrofurantoin, and sertraline. […] Thyroid dysfunction: Maternal thyroid dysfunction increases the risk of single-suture synostosis, particularly affecting the sagittal suture.

• #38 Craniosynostosis – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK544366/

  Craniosynostosis occurs due to the premature in-utero fusion of one or more cranial sutures. […] Almost 20% of all craniosynostoses have a genetic basis, most of which are inherited in an autosomal dominant fashion. […] Roughly 86% of cases involve a single-gene mutation, whereas 15% are linked to chromosomal abnormalities. […] The most common genes affected in craniosynostosis are those in the fibroblast growth factor receptor (FGFR) pathway. […] Genetic factors: Around 15% of SSC cases involve causal variants in 29 genes, with mutations being autosomal dominant in 8% of cases. […] Some of the risk factors identified to contribute to the development of craniosynostosis include: Environmental factors: Advanced parental age, maternal smoking (15 cigarettes/day), in vitro fertilization, and specific medications, such as valproic acid, nitrofurantoin, and sertraline. […] Thyroid dysfunction: Maternal thyroid dysfunction increases the risk of single-suture synostosis, particularly affecting the sagittal suture.

• #39 Craniosynostosis – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK544366/

  Craniosynostosis occurs due to the premature in-utero fusion of one or more cranial sutures. […] Almost 20% of all craniosynostoses have a genetic basis, most of which are inherited in an autosomal dominant fashion. […] Roughly 86% of cases involve a single-gene mutation, whereas 15% are linked to chromosomal abnormalities. […] The most common genes affected in craniosynostosis are those in the fibroblast growth factor receptor (FGFR) pathway. […] Genetic factors: Around 15% of SSC cases involve causal variants in 29 genes, with mutations being autosomal dominant in 8% of cases. […] Some of the risk factors identified to contribute to the development of craniosynostosis include: Environmental factors: Advanced parental age, maternal smoking (15 cigarettes/day), in vitro fertilization, and specific medications, such as valproic acid, nitrofurantoin, and sertraline. […] Thyroid dysfunction: Maternal thyroid dysfunction increases the risk of single-suture synostosis, particularly affecting the sagittal suture.

• #40 Craniosynostosis – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK544366/

  Craniosynostosis occurs due to the premature in-utero fusion of one or more cranial sutures. […] Almost 20% of all craniosynostoses have a genetic basis, most of which are inherited in an autosomal dominant fashion. […] Roughly 86% of cases involve a single-gene mutation, whereas 15% are linked to chromosomal abnormalities. […] The most common genes affected in craniosynostosis are those in the fibroblast growth factor receptor (FGFR) pathway. […] Genetic factors: Around 15% of SSC cases involve causal variants in 29 genes, with mutations being autosomal dominant in 8% of cases. […] Some of the risk factors identified to contribute to the development of craniosynostosis include: Environmental factors: Advanced parental age, maternal smoking (15 cigarettes/day), in vitro fertilization, and specific medications, such as valproic acid, nitrofurantoin, and sertraline. […] Thyroid dysfunction: Maternal thyroid dysfunction increases the risk of single-suture synostosis, particularly affecting the sagittal suture.

• #41 Craniosynostosis – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK544366/

  Craniosynostosis occurs due to the premature in-utero fusion of one or more cranial sutures. […] Almost 20% of all craniosynostoses have a genetic basis, most of which are inherited in an autosomal dominant fashion. […] Roughly 86% of cases involve a single-gene mutation, whereas 15% are linked to chromosomal abnormalities. […] The most common genes affected in craniosynostosis are those in the fibroblast growth factor receptor (FGFR) pathway. […] Genetic factors: Around 15% of SSC cases involve causal variants in 29 genes, with mutations being autosomal dominant in 8% of cases. […] Some of the risk factors identified to contribute to the development of craniosynostosis include: Environmental factors: Advanced parental age, maternal smoking (15 cigarettes/day), in vitro fertilization, and specific medications, such as valproic acid, nitrofurantoin, and sertraline. […] Thyroid dysfunction: Maternal thyroid dysfunction increases the risk of single-suture synostosis, particularly affecting the sagittal suture.

• #42 Skull Anomaly (Craniosynostosis) | OHSU

  https://www.ohsu.edu/doernbecher/skull-anomaly-craniosynostosis

  Our providers are national leaders in diagnosing and treating craniosynostosis. This condition causes an infants skull to grow in an unusual shape. […] We dont know for sure what causes craniosynostosis. There are some factors that may increase your risk of having a child with craniosynostosis: […] Having thyroid disease. […] Taking certain medications, including the fertility medication clomiphene citrate, just before or early in pregnancy. […] Having a genetic condition that makes your baby more likely to have craniosynostosis involving multiple sutures. […] In most cases, syndromic craniosynostosis is linked to a genetic condition. It can cause mild or severe developmental problems. […] More than 150 syndromes are linked to craniosynostosis. The most common are Apert, Carpenter, Crouzon, Muenke, Pfeiffer and Saethre-Chotzen syndromes.

• #43 Craniosynostosis

  https://www.rwjbh.org/treatment-care/neuroscience/neurosurgery/conditions-treated/craniosynostosis/

  Craniosynostosis is a rare birth defect in which the skull bones fuse together too early, before the baby’s brain is fully formed. […] The cause of craniosynostosis remains unknown, but it is related to gene mutations. In many cases, though, researchers believe craniosynostosis is caused by environmental factors and if the mother eats, drinks, or takes medications that can affect pregnancy. […] Research by the CDC has found that some factors correlate with having a baby born with craniosynostosis: Maternal thyroid disease: Having thyroid disease or receiving thyroid disease treatment during pregnancy gives women a higher chance of having an infant born with craniosynostosis. […] Certain medications: If the mother took a fertility medication called clomiphene citrate before or during her pregnancy, it increases the likelihood of craniosynostosis in an infant. […] Genetic syndromes: Certain syndromes, such as Apert, Pfeiffer, and Crouzon syndromes, can affect skull development. If a genetic syndrome is suspected, genetic testing may be useful to identify the syndrome.

• #44 Craniosynostosis – Wikipedia

  https://en.wikipedia.org/wiki/Craniosynostosis

  Environmental factors refer for example to maternal smoking and the maternal exposure to amine-containing drugs. […] Hyperthyroid induced craniosynostosis is a hormone mediated premature closure. […] In 6 to 11% of the children born with coronal synostosis, more often involving the bilateral cases than unilateral, other members of the family have been reported that were also born with the same condition. […] This finding is highly suggestive of a genetic cause, which has possibly been found in the fibroblast growth factor receptor 3 (FGFR3) and TWIST genes. […] A relation between the mutations in these genes and craniosynostosis is therefore possible.

• #45 Craniosynostosis | AAFP

  https://www.aafp.org/pubs/afp/issues/2004/0615/p2863.html

  Craniosynostosis is the premature fusion of one or more of the cranial sutures and can occur as part of a syndrome or as an isolated defect (nonsyndromic). […] The etiology of nonsyndromic craniosynostosis is unknown, and the condition is sporadic in most instances. Potential risk factors identified from previous studies include white maternal race, advanced maternal age, male infant sex, maternal smoking, maternal residence at high altitude, use of nitrosatable drugs (e.g., nitrofurantoin, chlordiazepoxide, chlorpheniramine), certain paternal occupations (e.g., agriculture and forestry, mechanics, repairmen), and fertility treatments. […] Familial nonsyndromic craniosynostosis, which affects 2 to 6 percent of infants with sagittal synostosis and 8 to 14 percent of infants with coronal synostosis, is transmitted as an autosomal dominant disorder.

• #46 Craniosynostosis | AAFP

  https://www.aafp.org/pubs/afp/issues/2004/0615/p2863.html

  Craniosynostosis is the premature fusion of one or more of the cranial sutures and can occur as part of a syndrome or as an isolated defect (nonsyndromic). […] The etiology of nonsyndromic craniosynostosis is unknown, and the condition is sporadic in most instances. Potential risk factors identified from previous studies include white maternal race, advanced maternal age, male infant sex, maternal smoking, maternal residence at high altitude, use of nitrosatable drugs (e.g., nitrofurantoin, chlordiazepoxide, chlorpheniramine), certain paternal occupations (e.g., agriculture and forestry, mechanics, repairmen), and fertility treatments. […] Familial nonsyndromic craniosynostosis, which affects 2 to 6 percent of infants with sagittal synostosis and 8 to 14 percent of infants with coronal synostosis, is transmitted as an autosomal dominant disorder.

• #47 Pediatric Craniosynostosis: Background, Pathophysiology, Epidemiology

  https://emedicine.medscape.com/article/1281182-overview

  Craniosynostosis is a birth defect in which premature fusion of one or more cranial sutures occurs, often resulting in an abnormal head shape. It may result from a primary defect of ossification (primary craniosynostosis) or, more commonly, from a failure of brain growth (secondary craniosynostosis). […] More frequent than the primary type, secondary craniosynostosis can result from early fusion of sutures due to primary failure of brain growth. Since brain growth drives the bony plates apart at the sutures, a primary lack of brain growth allows premature fusion of all the sutures. […] Intrauterine space constraints may play a role in the premature fusion of sutures in the fetal skull. This has been demonstrated in coronal craniosynostosis. Other secondary causes of craniosynostosis include systemic disorders that affect bone metabolism such as rickets and hypercalcemia.

• #48 Craniosynostosis – Division of Plastic and Reconstructive Surgery

  https://www.med.unc.edu/surgery/plastic/forpatients/pediatric-plastic-and-craniofacial-surgery/craniosynostosis/

  Craniosynostosis is likely caused by a combination of environmental, hormonal and genetic factors that make the skull suture a little more likely to fuse. […] For children having craniosynostosis involving a single suture, it seems that the most common cause is environmental. […] This theory, sometimes referred to as in utero constraint, is supported by animal models where craniosynostosis may be induced by intentionally restricting skull growth while the animal is still in the womb. […] Although it is rare for single suture craniosynostoses to be passed from generation to generation in families, there are some reports suggesting heredity may play a role. […] It has also been observed that single suture craniosynostosis occurs more frequently in boys than girls, suggesting a possible hormonal mechanism in promoting early suture fusion. […] While our understanding of what causes craniosynostosis is still evolving, it does seem clear that single suture craniosynostosis is not caused by anything that the parents have done or neglected to do.

• #49 Craniosynostosis – Wikipedia

  https://en.wikipedia.org/wiki/Craniosynostosis

  Craniosynostosis is a condition in which one or more of the fibrous sutures in a young infant’s skull prematurely fuses by turning into bone (ossification), thereby changing the growth pattern of the skull. […] The term is from cranio, cranium; + syn, together; + ost, relating to bone; + osis, denoting a condition. Craniosynostosis is the opposite of metopism. […] Multiple potential causes of premature suture closure have been identified, such as the several genetic mutations that are associated with syndromic craniosynostosis. […] The cause of nonsyndromic craniosynostosis however, is still greatly unknown. […] Most likely, a role is played by biomechanical factors, as well as environmental, hormonal and genetic factors. […] Biomechanical factors include fetal head constraint during pregnancy.

• #50 Craniosynostosis | Contact

  https://contact.org.uk/conditions/craniosynostosis/

  Abnormalities of skull shape can arise either from external pressure applied on the head in pregnancy or infancy, or from problems when the skull is growing. The most common abnormality of skull growth is called craniosynostosis, which occurs due to the early closure of one or more of the seams between the skull bones called sutures. […] Intrauterine factors (within the womb) that increase the likelihood of craniosynostosis include having twins, reduced amniotic fluid (the fluid around the baby), an abnormally shaped womb and breech position (baby feet first rather than head first). […] Syndromes that cause craniosynostosis may be due to a change in genetic information (DNA). Genetic mutations can be identified in about 25 per cent of cases, including many of the specific syndromes and also in some children with apparently non-syndromic synostosis. Important genes identified to date are three of the fibroblast growth factor receptors (FGFR1, FGFR2 and FGFR3) and other genes called TWIST1, EFNB1, TCF12, ERF and SMAD.

• #51 Sagittal Craniosynostosis: Types, Treatment, and More

  https://www.verywellhealth.com/sagittal-craniosynostosis-5190936

  Most cases of sagittal craniosynostosis are considered random and do not have a known cause. This birth defect may be caused by a combination of genetic and environmental factors. […] While we still do not understand the exact causes of sagittal craniosynostosis, some risk factors appear to raise a babys risk of having this birth defect. […] The following risk factors are associated with sagittal craniosynostosis: Multiple babies in one pregnancy, such as twins or triplets; Large head size in utero; Maternal thyroid disease; Maternal smoking; Fertility treatments such as clomiphene citrate. […] Sagittal craniosynostosis may also be a symptom of a genetic disorder. Genetic disorders associated with sagittal craniosynostosis include: Apert syndrome is a genetic disorder that causes premature fusing of the bones in the skull, as well as in the fingers and toes; Beare-Stevenson syndrome is a genetic disorder that causes skin abnormalities and premature fusing of the skull bones; Crouzon syndrome is a genetic disorder that affects the bones, muscles, joints, and cartilage. It often leads to the premature fusing of several sutures in the skull; Jackson-Weiss syndrome is a genetic disorder that causes foot abnormalities and premature fusing of the skull bones; Muenke syndrome is a genetic disorder that causes the premature fusing of the coronal suture, as well as other areas of the skull; Pfeiffer syndrome is a rare genetic disorder that causes a babys skull bones to fuse together.

• #52 Craniosynostosis | Contact

  https://contact.org.uk/conditions/craniosynostosis/

  Abnormalities of skull shape can arise either from external pressure applied on the head in pregnancy or infancy, or from problems when the skull is growing. The most common abnormality of skull growth is called craniosynostosis, which occurs due to the early closure of one or more of the seams between the skull bones called sutures. […] Intrauterine factors (within the womb) that increase the likelihood of craniosynostosis include having twins, reduced amniotic fluid (the fluid around the baby), an abnormally shaped womb and breech position (baby feet first rather than head first). […] Syndromes that cause craniosynostosis may be due to a change in genetic information (DNA). Genetic mutations can be identified in about 25 per cent of cases, including many of the specific syndromes and also in some children with apparently non-syndromic synostosis. Important genes identified to date are three of the fibroblast growth factor receptors (FGFR1, FGFR2 and FGFR3) and other genes called TWIST1, EFNB1, TCF12, ERF and SMAD.

• #53 Craniosynostosis | Contact

  https://contact.org.uk/conditions/craniosynostosis/

  Abnormalities of skull shape can arise either from external pressure applied on the head in pregnancy or infancy, or from problems when the skull is growing. The most common abnormality of skull growth is called craniosynostosis, which occurs due to the early closure of one or more of the seams between the skull bones called sutures. […] Intrauterine factors (within the womb) that increase the likelihood of craniosynostosis include having twins, reduced amniotic fluid (the fluid around the baby), an abnormally shaped womb and breech position (baby feet first rather than head first). […] Syndromes that cause craniosynostosis may be due to a change in genetic information (DNA). Genetic mutations can be identified in about 25 per cent of cases, including many of the specific syndromes and also in some children with apparently non-syndromic synostosis. Important genes identified to date are three of the fibroblast growth factor receptors (FGFR1, FGFR2 and FGFR3) and other genes called TWIST1, EFNB1, TCF12, ERF and SMAD.

• #54 Craniosynostosis | Contact

  https://contact.org.uk/conditions/craniosynostosis/

  Abnormalities of skull shape can arise either from external pressure applied on the head in pregnancy or infancy, or from problems when the skull is growing. The most common abnormality of skull growth is called craniosynostosis, which occurs due to the early closure of one or more of the seams between the skull bones called sutures. […] Intrauterine factors (within the womb) that increase the likelihood of craniosynostosis include having twins, reduced amniotic fluid (the fluid around the baby), an abnormally shaped womb and breech position (baby feet first rather than head first). […] Syndromes that cause craniosynostosis may be due to a change in genetic information (DNA). Genetic mutations can be identified in about 25 per cent of cases, including many of the specific syndromes and also in some children with apparently non-syndromic synostosis. Important genes identified to date are three of the fibroblast growth factor receptors (FGFR1, FGFR2 and FGFR3) and other genes called TWIST1, EFNB1, TCF12, ERF and SMAD.

• #55 Sagittal Craniosynostosis: Types, Treatment, and More

  https://www.verywellhealth.com/sagittal-craniosynostosis-5190936

  Most cases of sagittal craniosynostosis are considered random and do not have a known cause. This birth defect may be caused by a combination of genetic and environmental factors. […] While we still do not understand the exact causes of sagittal craniosynostosis, some risk factors appear to raise a babys risk of having this birth defect. […] The following risk factors are associated with sagittal craniosynostosis: Multiple babies in one pregnancy, such as twins or triplets; Large head size in utero; Maternal thyroid disease; Maternal smoking; Fertility treatments such as clomiphene citrate. […] Sagittal craniosynostosis may also be a symptom of a genetic disorder. Genetic disorders associated with sagittal craniosynostosis include: Apert syndrome is a genetic disorder that causes premature fusing of the bones in the skull, as well as in the fingers and toes; Beare-Stevenson syndrome is a genetic disorder that causes skin abnormalities and premature fusing of the skull bones; Crouzon syndrome is a genetic disorder that affects the bones, muscles, joints, and cartilage. It often leads to the premature fusing of several sutures in the skull; Jackson-Weiss syndrome is a genetic disorder that causes foot abnormalities and premature fusing of the skull bones; Muenke syndrome is a genetic disorder that causes the premature fusing of the coronal suture, as well as other areas of the skull; Pfeiffer syndrome is a rare genetic disorder that causes a babys skull bones to fuse together.

• #56 Craniosynostosis – UF Health

  https://ufhealth.org/conditions-and-treatments/craniosynostosis

  The sutures of a babys skull serve as growth plates that allow the skull to grow in response to brain growth. In craniosynostosis, one or more of the sutures close early. The skull then attempts to grow parallel to the fused cranial suture, rather than perpendicular to it, causing an abnormal head shape. […] The number of infants with head shape deformities has risen over the past several years, likely due to increased awareness of the „Back to Sleep” program. […] However, some deformities are caused by craniosynostosis, a condition where skull sutures fuse prematurely. […] Occurring in one out of 2,000 to 2,500 live births, craniosynostosis may be spontaneous, syndromic, or familial and can present in many different forms. […] In most infants, the cause of primary craniosynostosis is unknown and the child is otherwise healthy. Risk factors for craniosynostosis includes: Fetal constraint (null parity, plurality, macrosomia), Low birth weight, Preterm delivery, Maternal valproate use, Shunted hydrocephalus.

• #57 Craniosynostosis – Division of Plastic and Reconstructive Surgery

  https://www.med.unc.edu/surgery/plastic/forpatients/pediatric-plastic-and-craniofacial-surgery/craniosynostosis/

  Craniosynostosis is likely caused by a combination of environmental, hormonal and genetic factors that make the skull suture a little more likely to fuse. […] For children having craniosynostosis involving a single suture, it seems that the most common cause is environmental. […] This theory, sometimes referred to as in utero constraint, is supported by animal models where craniosynostosis may be induced by intentionally restricting skull growth while the animal is still in the womb. […] Although it is rare for single suture craniosynostoses to be passed from generation to generation in families, there are some reports suggesting heredity may play a role. […] It has also been observed that single suture craniosynostosis occurs more frequently in boys than girls, suggesting a possible hormonal mechanism in promoting early suture fusion. […] While our understanding of what causes craniosynostosis is still evolving, it does seem clear that single suture craniosynostosis is not caused by anything that the parents have done or neglected to do.

• #58 Craniosynostosis – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK544366/

  Craniosynostosis occurs due to the premature in-utero fusion of one or more cranial sutures. […] Almost 20% of all craniosynostoses have a genetic basis, most of which are inherited in an autosomal dominant fashion. […] Roughly 86% of cases involve a single-gene mutation, whereas 15% are linked to chromosomal abnormalities. […] The most common genes affected in craniosynostosis are those in the fibroblast growth factor receptor (FGFR) pathway. […] Genetic factors: Around 15% of SSC cases involve causal variants in 29 genes, with mutations being autosomal dominant in 8% of cases. […] Some of the risk factors identified to contribute to the development of craniosynostosis include: Environmental factors: Advanced parental age, maternal smoking (15 cigarettes/day), in vitro fertilization, and specific medications, such as valproic acid, nitrofurantoin, and sertraline. […] Thyroid dysfunction: Maternal thyroid dysfunction increases the risk of single-suture synostosis, particularly affecting the sagittal suture.

• #59 Craniosynostosis – Wikipedia

  https://en.wikipedia.org/wiki/Craniosynostosis

  Environmental factors refer for example to maternal smoking and the maternal exposure to amine-containing drugs. […] Hyperthyroid induced craniosynostosis is a hormone mediated premature closure. […] In 6 to 11% of the children born with coronal synostosis, more often involving the bilateral cases than unilateral, other members of the family have been reported that were also born with the same condition. […] This finding is highly suggestive of a genetic cause, which has possibly been found in the fibroblast growth factor receptor 3 (FGFR3) and TWIST genes. […] A relation between the mutations in these genes and craniosynostosis is therefore possible.

• #60 Craniosynostosis – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK544366/

  Craniosynostosis occurs due to the premature in-utero fusion of one or more cranial sutures. […] Almost 20% of all craniosynostoses have a genetic basis, most of which are inherited in an autosomal dominant fashion. […] Roughly 86% of cases involve a single-gene mutation, whereas 15% are linked to chromosomal abnormalities. […] The most common genes affected in craniosynostosis are those in the fibroblast growth factor receptor (FGFR) pathway. […] Genetic factors: Around 15% of SSC cases involve causal variants in 29 genes, with mutations being autosomal dominant in 8% of cases. […] Some of the risk factors identified to contribute to the development of craniosynostosis include: Environmental factors: Advanced parental age, maternal smoking (15 cigarettes/day), in vitro fertilization, and specific medications, such as valproic acid, nitrofurantoin, and sertraline. […] Thyroid dysfunction: Maternal thyroid dysfunction increases the risk of single-suture synostosis, particularly affecting the sagittal suture.

• #61 Craniosynostosis

  https://www.rwjbh.org/treatment-care/neuroscience/neurosurgery/conditions-treated/craniosynostosis/

  Craniosynostosis is a rare birth defect in which the skull bones fuse together too early, before the baby’s brain is fully formed. […] The cause of craniosynostosis remains unknown, but it is related to gene mutations. In many cases, though, researchers believe craniosynostosis is caused by environmental factors and if the mother eats, drinks, or takes medications that can affect pregnancy. […] Research by the CDC has found that some factors correlate with having a baby born with craniosynostosis: Maternal thyroid disease: Having thyroid disease or receiving thyroid disease treatment during pregnancy gives women a higher chance of having an infant born with craniosynostosis. […] Certain medications: If the mother took a fertility medication called clomiphene citrate before or during her pregnancy, it increases the likelihood of craniosynostosis in an infant. […] Genetic syndromes: Certain syndromes, such as Apert, Pfeiffer, and Crouzon syndromes, can affect skull development. If a genetic syndrome is suspected, genetic testing may be useful to identify the syndrome.

• #62 Craniosynostosis – Wikipedia

  https://en.wikipedia.org/wiki/Craniosynostosis

  Environmental factors refer for example to maternal smoking and the maternal exposure to amine-containing drugs. […] Hyperthyroid induced craniosynostosis is a hormone mediated premature closure. […] In 6 to 11% of the children born with coronal synostosis, more often involving the bilateral cases than unilateral, other members of the family have been reported that were also born with the same condition. […] This finding is highly suggestive of a genetic cause, which has possibly been found in the fibroblast growth factor receptor 3 (FGFR3) and TWIST genes. […] A relation between the mutations in these genes and craniosynostosis is therefore possible.

• #63 Pediatric Craniosynostosis: Background, Pathophysiology, Epidemiology

  https://emedicine.medscape.com/article/1281182-overview

  Craniosynostosis is a birth defect in which premature fusion of one or more cranial sutures occurs, often resulting in an abnormal head shape. It may result from a primary defect of ossification (primary craniosynostosis) or, more commonly, from a failure of brain growth (secondary craniosynostosis). […] More frequent than the primary type, secondary craniosynostosis can result from early fusion of sutures due to primary failure of brain growth. Since brain growth drives the bony plates apart at the sutures, a primary lack of brain growth allows premature fusion of all the sutures. […] Intrauterine space constraints may play a role in the premature fusion of sutures in the fetal skull. This has been demonstrated in coronal craniosynostosis. Other secondary causes of craniosynostosis include systemic disorders that affect bone metabolism such as rickets and hypercalcemia.

• #64 Pediatric Craniosynostosis: Background, Pathophysiology, Epidemiology

  https://emedicine.medscape.com/article/1281182-overview

  Craniosynostosis is a birth defect in which premature fusion of one or more cranial sutures occurs, often resulting in an abnormal head shape. It may result from a primary defect of ossification (primary craniosynostosis) or, more commonly, from a failure of brain growth (secondary craniosynostosis). […] More frequent than the primary type, secondary craniosynostosis can result from early fusion of sutures due to primary failure of brain growth. Since brain growth drives the bony plates apart at the sutures, a primary lack of brain growth allows premature fusion of all the sutures. […] Intrauterine space constraints may play a role in the premature fusion of sutures in the fetal skull. This has been demonstrated in coronal craniosynostosis. Other secondary causes of craniosynostosis include systemic disorders that affect bone metabolism such as rickets and hypercalcemia.

• #65 Pediatric Craniosynostosis: Background, Pathophysiology, Epidemiology

  https://emedicine.medscape.com/article/1281182-overview

  Craniosynostosis is a birth defect in which premature fusion of one or more cranial sutures occurs, often resulting in an abnormal head shape. It may result from a primary defect of ossification (primary craniosynostosis) or, more commonly, from a failure of brain growth (secondary craniosynostosis). […] More frequent than the primary type, secondary craniosynostosis can result from early fusion of sutures due to primary failure of brain growth. Since brain growth drives the bony plates apart at the sutures, a primary lack of brain growth allows premature fusion of all the sutures. […] Intrauterine space constraints may play a role in the premature fusion of sutures in the fetal skull. This has been demonstrated in coronal craniosynostosis. Other secondary causes of craniosynostosis include systemic disorders that affect bone metabolism such as rickets and hypercalcemia.

• #66 Pediatric Craniosynostosis: Background, Pathophysiology, Epidemiology

  https://emedicine.medscape.com/article/1281182-overview

  Craniosynostosis is a birth defect in which premature fusion of one or more cranial sutures occurs, often resulting in an abnormal head shape. It may result from a primary defect of ossification (primary craniosynostosis) or, more commonly, from a failure of brain growth (secondary craniosynostosis). […] More frequent than the primary type, secondary craniosynostosis can result from early fusion of sutures due to primary failure of brain growth. Since brain growth drives the bony plates apart at the sutures, a primary lack of brain growth allows premature fusion of all the sutures. […] Intrauterine space constraints may play a role in the premature fusion of sutures in the fetal skull. This has been demonstrated in coronal craniosynostosis. Other secondary causes of craniosynostosis include systemic disorders that affect bone metabolism such as rickets and hypercalcemia.

• #67 Craniosynostosis | Radiology Reference Article | Radiopaedia.org

  https://radiopaedia.org/articles/craniosynostosis?lang=us

  Craniosynostosis (plural: craniosynostoses) refers to the premature closure of the cranial sutures. The skull shape then undergoes characteristic changes depending on which suture(s) close early. […] Primary forms are either sporadic or familial. Secondary craniosynostosis occurs in relation to a variety of causes: […] endocrine disorders […] hematologic disorders causing bone marrow hyperplasia […] inadequate brain growth.

• #68 Secondary Craniosynostoses | SpringerLink

  https://link.springer.com/doi/10.1007/978-3-319-31512-6_64-1

  Craniosynostoses can be divided generally into primary and secondary ones. […] Although majority of craniosynostosis cases are of genetic origin (primary synostoses), a small number results from other causes, particularly metabolic, hematologic, or drug-related disorders. […] In some cases synostosis may occur as a consequence to overdrainage in children treated with shunts for hydrocephalus. […] A specific situation is microcephaly resulting from early sutures closure associated with failure of brain growth. […] The various aspects of the secondary craniosynostosis are presented and discussed in the chapter.

• #69 Craniosynostosis | Radiology Reference Article | Radiopaedia.org

  https://radiopaedia.org/articles/craniosynostosis?lang=us

  Craniosynostosis (plural: craniosynostoses) refers to the premature closure of the cranial sutures. The skull shape then undergoes characteristic changes depending on which suture(s) close early. […] Primary forms are either sporadic or familial. Secondary craniosynostosis occurs in relation to a variety of causes: […] endocrine disorders […] hematologic disorders causing bone marrow hyperplasia […] inadequate brain growth.

• #70 Craniosynostosis | Radiology Reference Article | Radiopaedia.org

  https://radiopaedia.org/articles/craniosynostosis?lang=us

  Craniosynostosis (plural: craniosynostoses) refers to the premature closure of the cranial sutures. The skull shape then undergoes characteristic changes depending on which suture(s) close early. […] Primary forms are either sporadic or familial. Secondary craniosynostosis occurs in relation to a variety of causes: […] endocrine disorders […] hematologic disorders causing bone marrow hyperplasia […] inadequate brain growth.

• #71 Craniosynostosis | Radiology Reference Article | Radiopaedia.org

  https://radiopaedia.org/articles/craniosynostosis?lang=us

  Craniosynostosis (plural: craniosynostoses) refers to the premature closure of the cranial sutures. The skull shape then undergoes characteristic changes depending on which suture(s) close early. […] Primary forms are either sporadic or familial. Secondary craniosynostosis occurs in relation to a variety of causes: […] endocrine disorders […] hematologic disorders causing bone marrow hyperplasia […] inadequate brain growth.

• #72 Secondary Craniosynostoses | SpringerLink

  https://link.springer.com/doi/10.1007/978-3-319-31512-6_64-1

  Craniosynostoses can be divided generally into primary and secondary ones. […] Although majority of craniosynostosis cases are of genetic origin (primary synostoses), a small number results from other causes, particularly metabolic, hematologic, or drug-related disorders. […] In some cases synostosis may occur as a consequence to overdrainage in children treated with shunts for hydrocephalus. […] A specific situation is microcephaly resulting from early sutures closure associated with failure of brain growth. […] The various aspects of the secondary craniosynostosis are presented and discussed in the chapter.

• #73 Secondary Craniosynostoses | SpringerLink

  https://link.springer.com/doi/10.1007/978-3-319-31512-6_64-1

  Craniosynostoses can be divided generally into primary and secondary ones. […] Although majority of craniosynostosis cases are of genetic origin (primary synostoses), a small number results from other causes, particularly metabolic, hematologic, or drug-related disorders. […] In some cases synostosis may occur as a consequence to overdrainage in children treated with shunts for hydrocephalus. […] A specific situation is microcephaly resulting from early sutures closure associated with failure of brain growth. […] The various aspects of the secondary craniosynostosis are presented and discussed in the chapter.

• #74 Craniosynostosis: An epistatic explanation | eLife

  https://elifesciences.org/articles/21162

  It has been suggested that the sporadic occurrence of non-syndromic craniosynostosis is due to de novo (non-inherited) genetic mutations and/or because these mutations do not consistently produce the same symptoms. […] Timberlake et al. found that SMAD6 mutations produce craniosynostosis in only 9% of cases. However, when an individual has both the SMAD6 mutation and the BMP2 risk allele (which on its own leads to the disorder in just 0.08% of cases), craniosynostosis occurs 100% of the time. Thus, these findings clearly indicate that epistatic interactions interactions where the effect produced by a given gene depends on the presence of other genes of rare (SMAD6) and common (BMP2) gene variants are a defining feature of the cause of midline craniosynostosis. […] Timberlake et al. also show that there is no epistatic interaction between the mutant SMAD6 variant and the other mutation that is known to be associated with midline craniosynostosis (a single nucleotide polymorphism in BBS9; Justice et al., 2012). This finding further supports the hypothesis that an increase in BMP signaling is likely to underlie the symptoms of craniosynostosis.

• #75 Craniosynostosis: An epistatic explanation | eLife

  https://elifesciences.org/articles/21162

  It has been suggested that the sporadic occurrence of non-syndromic craniosynostosis is due to de novo (non-inherited) genetic mutations and/or because these mutations do not consistently produce the same symptoms. […] Timberlake et al. found that SMAD6 mutations produce craniosynostosis in only 9% of cases. However, when an individual has both the SMAD6 mutation and the BMP2 risk allele (which on its own leads to the disorder in just 0.08% of cases), craniosynostosis occurs 100% of the time. Thus, these findings clearly indicate that epistatic interactions interactions where the effect produced by a given gene depends on the presence of other genes of rare (SMAD6) and common (BMP2) gene variants are a defining feature of the cause of midline craniosynostosis. […] Timberlake et al. also show that there is no epistatic interaction between the mutant SMAD6 variant and the other mutation that is known to be associated with midline craniosynostosis (a single nucleotide polymorphism in BBS9; Justice et al., 2012). This finding further supports the hypothesis that an increase in BMP signaling is likely to underlie the symptoms of craniosynostosis.

• #76 Craniosynostosis: An epistatic explanation | eLife

  https://elifesciences.org/articles/21162

  It has been suggested that the sporadic occurrence of non-syndromic craniosynostosis is due to de novo (non-inherited) genetic mutations and/or because these mutations do not consistently produce the same symptoms. […] Timberlake et al. found that SMAD6 mutations produce craniosynostosis in only 9% of cases. However, when an individual has both the SMAD6 mutation and the BMP2 risk allele (which on its own leads to the disorder in just 0.08% of cases), craniosynostosis occurs 100% of the time. Thus, these findings clearly indicate that epistatic interactions interactions where the effect produced by a given gene depends on the presence of other genes of rare (SMAD6) and common (BMP2) gene variants are a defining feature of the cause of midline craniosynostosis. […] Timberlake et al. also show that there is no epistatic interaction between the mutant SMAD6 variant and the other mutation that is known to be associated with midline craniosynostosis (a single nucleotide polymorphism in BBS9; Justice et al., 2012). This finding further supports the hypothesis that an increase in BMP signaling is likely to underlie the symptoms of craniosynostosis.

• #77 Craniosynostosis: Types, causes, diagnosis, and treatment

  https://www.medicalnewstoday.com/articles/223128

  Craniosynostosis is a rare condition in which a baby develops or is born with an unusually shaped skull. […] It happens when one or more of the natural spaces in the infants skull join together too early before birth or after delivery. These spaces are known as cranial sutures. […] The cause of craniosynostosis depends on the type. The condition can be nonsyndromic, or syndromic. […] Syndromic craniosynostosis is part of a syndrome. It happens along with other birth defects. […] When a gene mutates, the information it would normally carry changes. As a result, in one of the bodys functions may not work correctly. […] With craniosynostosis, there may be changes in a number of genes. […] In this case, the cause remains unknown. […] Here are some possible explanations: A cell defect in the sutures causes them to fuse too early. […] The fetus assumes a position in the womb that puts pressure on the head and push the plates of bone in the skull together.

• #78 Craniosynostosis: Types, causes, diagnosis, and treatment

  https://www.medicalnewstoday.com/articles/223128

  Craniosynostosis is a rare condition in which a baby develops or is born with an unusually shaped skull. […] It happens when one or more of the natural spaces in the infants skull join together too early before birth or after delivery. These spaces are known as cranial sutures. […] The cause of craniosynostosis depends on the type. The condition can be nonsyndromic, or syndromic. […] Syndromic craniosynostosis is part of a syndrome. It happens along with other birth defects. […] When a gene mutates, the information it would normally carry changes. As a result, in one of the bodys functions may not work correctly. […] With craniosynostosis, there may be changes in a number of genes. […] In this case, the cause remains unknown. […] Here are some possible explanations: A cell defect in the sutures causes them to fuse too early. […] The fetus assumes a position in the womb that puts pressure on the head and push the plates of bone in the skull together.

• #79 Genetic Causes of Craniosynostosis: An Update

  https://pmc.ncbi.nlm.nih.gov/articles/PMC6422124/

  In 2015, a total of 57 human genes were described for which there had been evidence that mutations were causally related to craniosynostosis (based on at least 2 affected individuals with congruent phenotypes). These genes can be divided into 2 broad groups. First, a group of 20 genes causing syndromes that are frequently associated with craniosynostosis (50%; core genes). Second, a group of genes that cause disorders that are probably causally associated with craniosynostosis but only in a minority of the cases. […] Besides these single-gene origins, another large group is caused by chromosomal rearrangements (approximately 13%). […] Many of the genes act in previously described pathways that are involved in the biology of cranial suture development, such as the Sonic hedgehog pathway, WNT-signaling, NOTCH/EPH pathway, the RAS/MAPK pathway, Indian hedgehog, Retinoic acid, and/or the STAT3 pathway. These are classical pathways that are involved in early embryonic development. But also, many of the gene defects may act through causing perturbations in osteogenesis, such as filaminopathies, hypophosphatasia, mucopolysaccharidoses, osteosclerosis, and pycnodysostosis. […] In conclusion, the phenotypes associated with newly identified mutations are less specific and some are very rare. This, in combination with the increasing number of potential genetic causes and the possibility of digenic disease mechanisms indicate the importance of next-generation sequencing.

• #80 Genetic Causes of Craniosynostosis: An Update

  https://pmc.ncbi.nlm.nih.gov/articles/PMC6422124/

  In 2015, a total of 57 human genes were described for which there had been evidence that mutations were causally related to craniosynostosis (based on at least 2 affected individuals with congruent phenotypes). These genes can be divided into 2 broad groups. First, a group of 20 genes causing syndromes that are frequently associated with craniosynostosis (50%; core genes). Second, a group of genes that cause disorders that are probably causally associated with craniosynostosis but only in a minority of the cases. […] Besides these single-gene origins, another large group is caused by chromosomal rearrangements (approximately 13%). […] Many of the genes act in previously described pathways that are involved in the biology of cranial suture development, such as the Sonic hedgehog pathway, WNT-signaling, NOTCH/EPH pathway, the RAS/MAPK pathway, Indian hedgehog, Retinoic acid, and/or the STAT3 pathway. These are classical pathways that are involved in early embryonic development. But also, many of the gene defects may act through causing perturbations in osteogenesis, such as filaminopathies, hypophosphatasia, mucopolysaccharidoses, osteosclerosis, and pycnodysostosis. […] In conclusion, the phenotypes associated with newly identified mutations are less specific and some are very rare. This, in combination with the increasing number of potential genetic causes and the possibility of digenic disease mechanisms indicate the importance of next-generation sequencing.

• #81 Craniosynostosis: MedlinePlus Medical EncyclopediaLock

  https://medlineplus.gov/ency/article/001590.htm

  Craniosynostosis is a birth defect in which one or more sutures on a baby’s head closes earlier than usual. […] The cause of craniosynostosis is not known. Genes may play a role, but there is usually no family history of the condition. It may be caused by external pressure on a baby’s head before birth. Abnormal development of the base of the skull and the membranes around the skull bones is believed to affect the movement and position of the bones as they grow. […] In cases when this is passed down through families, it may occur with other health problems, such as seizures, decreased intelligence, and blindness. Genetic disorders commonly linked to craniosynostosis include Crouzon, Apert, Carpenter, Saethre-Chotzen, and Pfeiffer syndromes.

• #82 Craniosynostosis | AAFP

  https://www.aafp.org/pubs/afp/issues/2004/0615/p2863.html

  Fibroblast growth factor and fibroblast growth factor receptor (FGFR) regulate fetal osteogenic growth and are expressed in cranial sutures in early fetal life. These factors possibly influence fetal suture patency. […] Mutations in the gene coding for FGFR1 cause Pfeiffers disease, and mutations in FGFR2 cause Aperts syndrome and Crouzons disease.

• #83 Craniosynostosis | European Journal of Human Genetics

  https://www.nature.com/articles/ejhg2010235

  Craniosynostosis, defined as the premature fusion of the cranial sutures, presents many challenges in classification and treatment. At least 20% of cases are caused by specific single gene mutations or chromosome abnormalities. […] Both environmental factors (especially intrauterine fetal head constraint) and genes (single gene mutations, chromosome abnormalities and polygenic background) predispose to craniosynostosis. […] Most genetically determined craniosynostosis is characterised by autosomal dominant inheritance, but around half of cases are accounted for by new mutations. […] Apart from the genetic implications, it is important to recognise cases with a genetic cause because they are more likely to be associated with multiple suture synostosis and extracranial complications. […] Genes most commonly mutated in craniosynostosis are FGFR2, FGFR3, TWIST1 and EFNB1.

• #84 Craniosynostosis | European Journal of Human Genetics

  https://www.nature.com/articles/ejhg2010235

  Craniosynostosis, defined as the premature fusion of the cranial sutures, presents many challenges in classification and treatment. At least 20% of cases are caused by specific single gene mutations or chromosome abnormalities. […] Both environmental factors (especially intrauterine fetal head constraint) and genes (single gene mutations, chromosome abnormalities and polygenic background) predispose to craniosynostosis. […] Most genetically determined craniosynostosis is characterised by autosomal dominant inheritance, but around half of cases are accounted for by new mutations. […] Apart from the genetic implications, it is important to recognise cases with a genetic cause because they are more likely to be associated with multiple suture synostosis and extracranial complications. […] Genes most commonly mutated in craniosynostosis are FGFR2, FGFR3, TWIST1 and EFNB1.

• #85 Craniosynostosis – Seattle Children’s

  https://www.seattlechildrens.org/conditions/craniosynostosis/

  Craniosynostosis (kray-nee-o-sin-os-TOE-sis) is when 1 or more of the soft fibrous seams (sutures) in a baby’s skull close earlier than normal. […] Doctors do not know exactly what causes craniosynostosis. Babies are often born with it (its congenital). […] If a child has more than 1 fused suture, their craniosynostosis may be part of a genetic condition, such as Crouzon syndrome, Apert syndrome, Saethre-Chotzen syndrome, Muenke syndrome or Pfeiffer syndrome. […] Our Craniofacial Genetics Clinic can test for changes in genes that might cause your baby’s craniosynostosis. Diagnosing the specific syndrome helps us give your child the best care. […] Better understand the genetic causes of craniosynostosis.

• #86 Pediatric Craniosynostosis – Conditions and Treatments | Children’s National Hospital

  https://www.childrensnational.org/get-care/health-library/craniosynostosis

  Craniosynostosis usually occurs randomly for unknown reasons. However, some types can be associated with genetic disorders such as: […] Genetic counseling may be recommended by the doctor to evaluate the parents of the child for any hereditary disorders that may tend to run in families.

• #87 About Craniosynostosis – Stanford Medicine Children’s Health

  https://www.stanfordchildrens.org/en/services/craniosynostosis/condition.html

  The premature fusion of one or more of the sutures is called craniosynostosis, a condition which afflicts about 1 in every 2,000 babies. […] The cause of the premature fusion also differentiates the major types of craniosynostosis. If a case is caused by an isolated malfunction in the sutures themselves, it is called primary craniosynostosis. Essentially, a defect in the sutures programming instructs it to fuse before the time is right. […] However, many cases are labeled as secondary craniosynostosis, which results from syndromic conditions typically caused by genetic abnormalities. These genetic differences can also cause symptoms elsewhere in the body, including ear abnormalities, limb defects or cardiovascular malformations. […] Some forms of craniosynostosis have genetic causes that can be identified by laboratory analysis. Once unveiled, a hereditary form can be watched closely for secondary conditions, which may not present until much later in life.

• #88 Craniosynostosis: An epistatic explanation | eLife

  https://elifesciences.org/articles/21162

  The obvious next steps are to understand the cellular mechanisms that cause cranial sutures to fuse prematurely, and to confirm whether human patients with mutations in the Smad6 and BMP2 genes experience increased cell death in the sutures. […] This epistatic interaction of rare and common variants defines the most frequent cause of midline craniosynostosis and has implications for the genetic basis of other diseases.

• #89 Craniosynostosis | Hanger Clinic

  https://hangerclinic.com/library/craniosynostosis/

  According to the Centers for Disease Control and Prevention, 1 in every 2,500 babies is estimated to be born with craniosynostosis. While the causes have yet to be proven, researchers believe the condition occurs due to a combination of genes and other factors. Studies are currently underway to further understand the causes of, and risks for, craniosynostosis. […] Craniosynostosis is the premature fusion of one or more sutures that prevents the normal perpendicular bone growth of your baby’s skull. As a result, the bones grow parallel to the suture and produce both skull and facial differences. […] Treatment for craniosynostosis is time-sensitive. When left untreated, it can lead to permanent skull deformities and inadequate room for brain growth and development.

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