Materiały źródłowe

• #1 Dwarfism: Types, Causes, Treatments, and More

  https://www.webmd.com/children/dwarfism-causes-treatments

  Dwarfism is when a person is short in stature because of their genes or a medical reason. Its defined by the advocacy groups Little People of the World Organization (LPOTW) and Little People of America (LPA) as an adult height of 4 feet 10 inches or under, as a result of a medical or genetic condition. […] There are about 400 types of dwarfism. Causes of proportionate dwarfism include metabolic and hormonal disorders such as growth hormone deficiency. […] The most common types of dwarfism, known as skeletal dysplasias, are genetic. Skeletal dysplasias are conditions of abnormal bone growth that cause disproportionate dwarfism. […] Achondroplasia is the most common form of dwarfism accounting for 70% of cases. […] Spondyloepiphyseal dysplasia refers to a group of conditions marked by a shortened trunk.

• #1 Dwarfism (for Parents) | Nemours KidsHealth

  https://kidshealth.org/en/parents/dwarfism.html

  Dwarfism is characterized by short stature caused by changes in bone and cartilage growth. […] There are over 700 different forms of skeletal dysplasia caused by genetic changes (mutations) that affect bone and cartilage growth. Many of these conditions result in short stature or dwarfism. […] Most often, genetic changes associated with various forms of dwarfism happen randomly, either before pregnancy (in the sperm or egg) or at the start of pregnancy (conception). Sometimes, dwarfism happens because a child inherited a genetic change(s) from one or both parents. […] In general, dwarfism is caused by a skeletal dysplasia that results in disproportionate short stature. […] Achondroplasia is the most common form of dwarfism. […] Diastrophic dysplasia is another form of short-limb dwarfism. […] Spondyloepiphyseal dysplasias (SED) are short-trunk skeletal dysplasias that involve the spine and the end of the bones that make up the joints (epiphyses).

• #1 Dwarfism: Types, causes, and information

  https://www.medicalnewstoday.com/articles/320286

  Dwarfism has many different causes. Several of the causes of dwarfism can lead to other health problems, such as osteoarthritis. […] Some conditions that cause dwarfism disrupt the hormones that enable the body to grow. Dwarfism can also be due to metabolic disorders or malnourishment. […] A group of conditions called skeletal dysplasias is the most common cause of dwarfism. […] Typically, skeletal dysplasias are genetic conditions. Most people with skeletal dysplasias have parents of normal stature. […] Other causes of dwarfism may be due to: organ failure that undermines the body’s ability to produce hormones or metabolize nutrients, insufficient levels of certain hormones, particularly human growth hormone (HGH), malnourishment or lack of sufficient food, resulting in growth problems. […] These are all secondary causes of dwarfism. This means they are not genetic, and may be reversible with early detection and prompt treatment.

• #1 Achondroplasia: Causes, Symptoms, and Diagnosis

  https://www.healthline.com/health/achondroplasia

  Achondroplasia is a bone growth disorder that causes disproportionate dwarfism. […] The disorder occurs in approximately 1 in 25,000 live births, according to Columbia University Medical Center (CUMC). […] During early fetal development, much of your skeleton is made up of cartilage. Normally, most cartilage eventually converts to bone. However, if you have achondroplasia, a lot of the cartilage doesn’t convert to bone. This is caused by mutations in the FGFR3 gene. […] Mutations in the FGFR3 gene cause the protein to be overactive. This interferes with normal skeletal development. […] In more than 80 percent of cases, achondroplasia isn’t inherited, according to the National Human Genome Research Institute (NHGRI). These cases are caused by spontaneous mutations in the FGFR3 gene.

• #1 Achondroplasia: Symptoms, Treatment, Causes & Diagnosis

  https://my.clevelandclinic.org/health/diseases/22183-achondroplasia

  Achondroplasia is caused by a gene mutation in the receptor that converts cartilage to bone during fetal development. […] Most cases of achondroplasia are not inherited. Anyone can be affected by achondroplasia. Around 80% of individuals with achondroplasia have parents of normal height and are born with a new gene alteration (de novo mutation). […] Only one parent needs to pass down the gene for a child to be born with achondroplasia (autosomal dominant). There is a 50% chance of a person with achondroplasia and a partner who does not have achondroplasia having a child with the disorder. […] If both parents have achondroplasia, there is a 25% chance that the child will be born with homozygous achondroplasia, which leads to stillbirth or death shortly after birth.

• #1 Achondroplasia – Wikipedia

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

  Achondroplasia is caused by a mutation in the fibroblast growth factor receptor 3 (FGFR3) gene that results in its protein being overactive. […] Achondroplasia results in impaired endochondral bone growth (bone growth within cartilage). […] The disorder has an autosomal dominant mode of inheritance, meaning only one mutated copy of the gene is required for the condition to occur. […] About 80% of cases occur in children of parents without the disease, and result from a new (de novo, or sporadic) mutation, which most commonly originates as a spontaneous change during spermatogenesis. […] The risk of a new mutation increases with the age of the father. […] Studies have demonstrated that new gene mutations for achondroplasia are exclusively inherited from the father and occur during spermatogenesis; it has been theorized that sperm carrying the mutation in FGFR3 have a selective advantage over sperm with normal FGFR3.

• #1 Dwarfism: Types, Causes, and More

  https://www.healthline.com/health/dwarfism

  Inherited genetic disorders can take two forms. One is recessive, which means you inherit two mutated genes (one from each parent) to have the condition. The other is dominant. You only need one mutated gene from either parent to have the disorder. […] Other risk factors for dwarfism include a hormone deficiency or malnutrition. There usually aren’t any risk factors for a hormone deficiency, but it can often be successfully treated. Serious malnutrition, which leads to weak bones and muscles, can also be overcome in many cases with a healthy, more nutrient-rich diet.

• #1 Achondroplasia (Dwarfism): Symptoms, Genetics, Definition, Inheritance, Treatment

  https://www.medicinenet.com/achondroplasia/article.htm

  Achondroplasia is caused by mutations in the FGFR3 gene which codes for a protein (fibroblast growth factor receptor 3) that is important for the maintenance of bone and brain tissues. Two specific mutations in this gene are responsible for almost all cases of achondroplasia. These mutations limit the process of ossification or the formation of bone from cartilage. The FGFR3 gene is located on the short (p) arm of chromosome 4 in chromosome band 4p16.3. […] Achondroplasia is inherited as an autosomal dominant trait whereby only a single copy of the abnormal gene (mutation) is required to cause achondroplasia. The gene for achondroplasia is fully penetrant, meaning that everyone who possesses it has achondroplasia. No one with the gene escapes achondroplasia. However, there is some variation in the expression of the gene, meaning that children with achondroplasia are not carbon copies of each other, although they may look alike to the untutored eye.

• #1 How is dwarfism inherited? – The Tech Interactive

  https://www.thetech.org/ask-a-geneticist/articles/2014/inheriting-dwarfism/

  And even if you both have it, each child still has only a 25% chance of ending up with your father’s dwarfism. […] The most common cause of dwarfism is one of these. […] Dominant dwarfism is caused by a version of a gene called FGFR3. […] The most common form of dwarfism is due to a DNA difference in the FGFR3 gene on chromosome 4. […] If your father’s dwarfism is due to a recessive cause, both copies of one of his genes must lead to dwarfism. […] Since this type of dwarfism is rare, then, assuming your partner isn’t too closely related, it is pretty unlikely she would be a carrier too. […] Keep in mind again, though, that the recessive form is pretty rare. Most cases of dwarfism are dominant.

• #1 Achondroplasia (Dwarfism): Symptoms, Genetics, Definition, Inheritance, Treatment

  https://www.medicinenet.com/achondroplasia/article.htm

  People with achondroplasia sometimes have children together. If so, each parent has a 50:50 chance of passing on the gene. Thus, each conception has the following chances: 25% chance for an average-size child, 50% chance for a child (like them) with achondroplasia, 25% chance for a conception with two achondroplasia genes. The combined presence of two genes for achondroplasia (called homozygous achondroplasia) causes a grievous skeletal disorder that leads to early death from breathing failure due to constriction by a tiny chest cage and neurologic problems from hydrocephalus.

• #1 Dwarfism – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK563282/

  Idiopathic Short Stature (ISS): Short stature is said to be idiopathic when no other etiology like endocrine/metabolic can be determined. […] Endocrine disorders: Growth hormone deficiency is a frequent cause of dwarfism. […] Genetic disorders: Many genetic conditions that are associated with short stature are- Down’s, Turner’s, Noonan’s, 3-M, Prader-Willi, Russell-Silver, Aarskog, and short stature homeobox gene deficiency syndrome. […] Bone diseases: The faulty formation of bone can also lead to short stature. […] Malnutrition can dampen the growth velocity and cause short stature. […] Other systemic diseases which have a secondary effect on growth are undernutrition, juvenile idiopathic arthritis, inflammatory bowel disease (IBD), celiac disease, chronic kidney disease (CKD), pulmonary/cardiac/immunologic/metabolic diseases, cancers, and glucocorticoid therapy.

• #1 Dwarfism | UM Health-Sparrow

  https://www.uofmhealthsparrow.org/departments-conditions/conditions/dwarfism

  Many medical conditions cause dwarfism. In general, dwarfism is divided into two broad categories: […] Most often dwarfism is caused by gene changes, also called genetic variants. In many children, it’s due to a random change in a child’s gene. But dwarfism also can be inherited due to a genetic variant in one or both parents. Other causes can include low levels of hormones and poor nutrition. Sometimes the cause of dwarfism is not known. […] The most common cause of dwarfism is a condition called achondroplasia, which causes disproportionately short stature. […] Another cause of disproportionate dwarfism is a rare condition called spondyloepiphyseal dysplasia congenita (SEDC). […] Growth hormone deficiency is a fairly common cause of proportionate dwarfism. It occurs when the pituitary gland doesn’t make enough growth hormone. […] Other causes of dwarfism include other genetic conditions, low levels of other hormones, or poor nutrition. Sometimes the cause is not known.

• #1 Pituitary Dwarfism – symptoms, Definition, Description, Demographics, Causes and symptoms, Diagnosis, Treatment

  http://www.healthofchildren.com/P/Pituitary-Dwarfism.html

  Pituitary dwarfism is caused by problems arising from the pituitary gland. […] Pituitary dwarfism can be caused by: genetics, accident-related trauma to the pituitary gland, surgical injury of the pituitary, central nervous system tumor, central nervous system trauma, central nervous system radiation, leukemia. […] In most cases, the cause of dwarfism is not known (idiopathic). […] At its most basic, pituitary dwarfism results from decreased production of hormones by the anterior pituitary. […] A common form of pituitary dwarfism is due to deficiencies in the production of growth hormone (GH). […] Since growth is a complex phenomenon, it may be slowed down or stopped by abnormalities arising at any point in the process. Thus, dwarfism can result if there is a deficiency in any of these hormones, if there is a failure in the receptor cells receiving the hormonal stimuli, or if the target cells are unable to respond.

• #1 Juvenile-Onset Panhypopituitarism in Dogs – Endocrine System – Merck Veterinary Manual

  https://www.merckvetmanual.com/endocrine-system/the-pituitary-gland/juvenile-onset-panhypopituitarism-in-dogs

  Panhypopituitarism in young dogs usually results from failure of the pars distalis of the pituitary to develop during gestation, which in turn leads to a deficiency of all the pituitary tropic hormones. […] Dwarfism results from a lack of growth hormone, with pars distalis failure leading to a range of other clinical signs associated with the lack of other hormones. […] Pituitary dwarfism is associated primarily with a failure of the oropharyngeal ectoderm of the cranial pharyngeal duct (the Rathke pouch) to differentiate into tropic hormone-secreting cells of the pars distalis. Consequently, the adenohypophysis does not completely develop. […] A mutation in the LHX3 gene, which encodes for a transcription factor necessary for pituitary development, is responsible. It is inherited as a simple autosomal recessive trait.

• #1 Dwarfism – Wikipedia

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

  Other causes of dwarfism are spondyloepiphyseal dysplasia congenita, diastrophic dysplasia, pseudoachondroplasia, hypochondroplasia, Noonan syndrome, primordial dwarfism, Cockayne syndrome, Kniest dysplasia, Turner syndrome, osteogenesis imperfecta (OI), and hypothyroidism. […] Severe shortness with skeletal distortion also occurs in several of the mucopolysaccharidoses and other storage disorders. […] Hypogonadotropic hypogonadism may cause proportionate, yet temporary, dwarfism.

• #1 Dwarfism: Types, Causes, Treatments, and More

  https://www.webmd.com/children/dwarfism-causes-treatments

  Diastrophic dysplasia is a rare form of dwarfism. […] Turner syndrome is a genetic condition that only affects females. Its caused by a missing or partial X chromosome. […] Skeletal dysplasia is caused by a genetic mutation. The gene mutation can occur spontaneously or can be inherited. […] Achondroplasia, on the other hand, is inherited in a dominant manner. […] Along with genetic skeletal dysplasia, short stature has other causes, including disorders of the pituitary, which influence growth and metabolism; kidney disease; and problems that affect the body’s ability to absorb nutrients.

• #1 Growth Problems in Children

  https://www.nationwidechildrens.org/conditions/health-library/growth-problems-in-children

  Growth disorders can have many causes. They usually fall into 1 of the following groups: […] Endocrine (hormone) diseases. Growth can be affected by some conditions that disrupt hormones. Thyroid hormone is essential for normal bone growth. The pituitary gland in the brain secretes several hormones, including growth hormone. Growth hormone deficiency can result from injuries to the pituitary gland or brain. Cushing syndrome can impair height and cause weight gain. Precocious puberty is a condition caused by hormone problems. It often causes fast growth and tall height compared with other children of the same age. But growth stops at an early age. As a result, children with precocious puberty may be short as adults. […] Genetic disorders. This includes Turner syndrome, Down syndrome, and achondroplasia. Turner syndrome happens when one X chromosome is missing. This genetic disorder occurs only in girls. It causes poor growth and delayed or no puberty. Down syndrome is another common genetic disorder causing poor growth and short stature. It results from an extra 21st chromosome. Achondroplasia is the most common type of dwarfism, resulting in a problem changing cartilage to bone. It causes a child’s arms and legs to be short. It also causes a large head and other features. […] Many disorders that can cause growth problems are idiopathic. That means their cause may not be fully known or understood. […] Growth disorders have many causes. They can include genes, illness, or problems with hormones.

• #1 Understanding Dwarfism: An In-Depth Exploration of a Unique Condi

  https://www.openaccessjournals.com/articles/understanding-dwarfism-an-indepth-exploration-of-a-unique-condition-17354.html

  Dwarfism is commonly defined as a medical or genetic condition resulting in a significantly shorter stature compared to the average height of the general population. […] Understanding the causes of dwarfism is crucial for both medical professionals and the general public. Dwarfism can result from a variety of factors, including genetic mutations, hormonal imbalances and medical conditions affecting bone and cartilage development. […] The majority of dwarfism cases are attributed to genetic factors. One of the most prevalent genetic causes is achondroplasia, a condition that affects the development of cartilage and bone, leading to shorter limbs and stature. […] While genetic factors are the primary contributors to dwarfism, there are non-genetic factors that can also lead to shorter stature. Nutritional deficiencies, hormonal imbalances and chronic illnesses during childhood can impact growth and contribute to dwarfism.

• #1 I Won’t Grow Up: The Causes of Psychogenic Dwarfism

  https://serendipstudio.org/bb/neuro/neuro01/web3/Munoz.html

  Psychogenic dwarfism is a growth disorder that is observed between the ages of 2 and 15, caused by extreme emotional deprivation. The symptoms include decreased growth hormone (GH) secretion, very short stature, weight that is inappropriate for the height, and immature skeletal age. This disease is a progressive one, and as long as the child is left in the stressing environment, his or her cognitive and linear abilities continue to degenerate. […] One of the major underlying commonalities among these children is the extremely low level of growth hormone. In a normal person, these growth hormones are secreted by the pituitary gland and are regulated by the hypothalamus. It involves a hormone that stimulates growth-growth hormone releasing hormone (GHRH) and one that inhibits release-growth hormone inhibiting hormone (GHIH). In children with psychogenic dwarfism, there may be a problem with the hypothalamus-either too little GHRH or too much GHIH, or perhaps a combination of both. While difficult to study in humans, animal studies indicate that the problem most likely lies in too much GHIH.

• #1 I Won’t Grow Up: The Causes of Psychogenic Dwarfism

  https://serendipstudio.org/bb/neuro/neuro01/web3/Munoz.html

  In cases of extreme stress, for example, running from an animal that is trying to kill you, your body reacts in certain ways in order to optimize your chances for survival. The hypothalamus becomes hyperactivated, which activates the pituitary gland, releasing adrenocorticotrophic (ACTH), into the blood, which in turn activates the adrenal glands to prepare for fight or flight. […] Children who suffer from psychogenic dwarfism, however, are in a constant state of stress. In addition to suffering from the effects of little to no growth hormones in their bodies, they also suffer severe gastrointestinal problems resulting from increased levels of epinephrine and norepinephrine. […] What specifically in this neglect causes psychogenic dwarfism? Is it the talking and encouragement? Or perhaps something else? There are human and animal studies that suggest that it is the lack of touch that results in the stunted growth.

• #1 Dwarfism – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK563282/

  Dwarfism is broadly categorized into two types based on the patient’s physical appearance, which are: proportionate short stature (PSS) and disproportionate short stature (DSS). […] The short stature can either be due to an underlying medical condition or a standard variant of growth. FSS, CDGP, and ISS described below can be considered as normal variants of growth, while the rest are pathological causes- […] Familial Short Stature (FSS): The child’s genetic height potential can be measured by measuring the mid-parental height, which is a child’s projected adult height based on parental height measurements. […] Constitutional delay of growth and puberty (CDGP): The child presents with short height in childhood, but attain their target height until adulthood, also known as a 'late bloomer’.

• #1 Dwarfism (Skeletal Dysplasia) & Other Causes of Short Stature

  https://my.clevelandclinic.org/health/diseases/17862-skeletal-dysplasia-dwarfism-and-other-causes-of-short-stature

  Dwarfism has many different forms. These conditions can affect different parts of the musculoskeletal system including the growth of the arms, legs, abdomen and/or head. […] Several potential causes lead to a dwarfism (skeletal dysplasia) diagnosis. A change to a persons DNA causes most cases of dwarfism, while several types have an unknown cause. […] Causes of dwarfism include: Familial: If parents and other family members are short, it can be normal for their child to be short. Genetic mutation: Changes to a persons DNA. Growth hormone deficiency: The brain doesnt make enough of the hormone that causes bones to grow. Late bloomer (constitutional delay): Some children are short earlier in childhood because theyre programmed to grow later than their peers. Theres sometimes a family history of a similar pattern of growth. Malnutrition: Not having adequate nutrition can affect a childs ability to grow. Small for gestational age: Most babies that are born small will catch up with their growth within the first two to three years of life, but 10% dont.

• #1 International collaboration discovers new cause for dwarfism – Children’s National

  https://innovationdistrict.childrensnational.org/international-collaboration-discovers-new-cause-for-dwarfism/

  An international collaboration resulted in the identification of a new cause of dwarfism: mutations in a gene known as DNMT3A. […] Dauber’s research focuses on using cutting-edge genetic techniques to unravel the minute differences in DNA that limit growth. This research recently led him and his colleagues to identify a new cause of dwarfism: mutations in a gene known as DNMT3A. […] Their results showed that these mutations appear to cause a gain of function in DNMT3A. […] Eventually, says Dauber, these findings could help lead to new treatments for this and other types of dwarfism that act on these genetic pathways and steer them toward normal growth.

• #1 Tmem263 deletion disrupts the GH/IGF-1 axis and causes dwarfism and impairs skeletal acquisition | eLife

  https://elifesciences.org/articles/90949

  Tmem263 deletion disrupts the GH/IGF-1 axis and causes dwarfism and impairs skeletal acquisition. […] Deletion of the Tmem263 gene in mice causes severe postnatal growth failure, proportional dwarfism, and impaired skeletal acquisition. […] The low serum IGF-1 in Tmem263-null mice is associated with reduced hepatic GH receptor (GHR) expression and GH-induced JAK2/STAT5 signaling. […] Collectively, our data validates the causal role for Tmem263 in regulating postnatal growth and raises the possibility that rare mutations or variants of TMEM263 may potentially cause GH insensitivity and impair linear growth. […] Since mutation in TMEM263 is linked to human skeletal dysplasia and dwarfism in chicken, and TMEM263 is also a GWAS candidate gene for BMD, we speculated that TMEM263 may be a novel regulator of the GH/IGF-1 axis.

• #1 Deletion in the EVC2 Gene Causes Chondrodysplastic Dwarfism in Tyrolean Grey Cattle | PLOS One

  https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0094861

  During the summer of 2013 seven Italian Tyrolean Grey calves were born with abnormally short limbs. […] A positional cloning approach combining genome wide association and homozygosity mapping identified a single 1.6 Mb genomic region on BTA 6 that was associated with the disease. […] Whole genome re-sequencing of an affected calf revealed a single candidate causal mutation in the Ellis van Creveld syndrome 2 (EVC2) gene. […] This loss of function mutation confirms the important role of EVC2 in bone development. Genetic testing can now be used to eliminate this form of chondrodysplastic dwarfism from Tyrolean Grey cattle. […] Chondrodysplasia is primarily caused by defects in genes that regulate normal chondrogenesis and cartilage development, resulting in abnormal shape and structure of the skeleton.

• #1 Could a rare mutation that causes dwarfism also slow ageing?

  https://www.nature.com/articles/d41586-024-01201-6

  A rare form of dwarfism that affects only 400-500 people worldwide has caught the interest of scientists who study ageing and metabolic diseases. This is because a series of studies have associated the condition with a number of positive health effects, including protection against diabetes, cancer and cognitive decline. […] Mice with a similar condition live for about 40% longer than do control animals. […] Dwarfism may stymie diseases of old age.

• #2 Dwarfism (Skeletal Dysplasia) & Other Causes of Short Stature

  https://my.clevelandclinic.org/health/diseases/17862-skeletal-dysplasia-dwarfism-and-other-causes-of-short-stature

  Dwarfism has many different forms. These conditions can affect different parts of the musculoskeletal system including the growth of the arms, legs, abdomen and/or head. […] Several potential causes lead to a dwarfism (skeletal dysplasia) diagnosis. A change to a persons DNA causes most cases of dwarfism, while several types have an unknown cause. […] Causes of dwarfism include: Familial: If parents and other family members are short, it can be normal for their child to be short. Genetic mutation: Changes to a persons DNA. Growth hormone deficiency: The brain doesnt make enough of the hormone that causes bones to grow. Late bloomer (constitutional delay): Some children are short earlier in childhood because theyre programmed to grow later than their peers. Theres sometimes a family history of a similar pattern of growth. Malnutrition: Not having adequate nutrition can affect a childs ability to grow. Small for gestational age: Most babies that are born small will catch up with their growth within the first two to three years of life, but 10% dont.

• #2 Dwarfism (Skeletal Dysplasia) & Other Causes of Short Stature

  https://my.clevelandclinic.org/health/diseases/17862-skeletal-dysplasia-dwarfism-and-other-causes-of-short-stature

  Yes, some types of dwarfism (caused by skeletal dysplasia) are genetic and result from a change in a persons DNA. In most cases, the genetic mutation happens randomly and isnt passed from a short-statured parent to a child. This means that most parents who have children diagnosed with dwarfism are of average height.

• #2 Osteochondrodysplasias (Osteochondrodysplastic Dwarfism) – Pediatrics – Merck Manual Professional Edition

  https://www.merckmanuals.com/professional/pediatrics/connective-tissue-disorders-in-children/osteochondrodysplasias-osteochondrodysplastic-dwarfism

  Osteochondrodysplasias involve abnormal bone or cartilage growth, leading to skeletal maldevelopment, often short-limbed dwarfism. […] The basic genetic defects have been identified in most of the osteochondrodysplasias. The mutations typically cause perturbation of function in proteins involved in growth and development of connective tissue, bone, or cartilage. […] Dwarfism is markedly short stature (adult height 4 ft 10 in) frequently associated with disproportionate growth of the trunk and extremities. […] Achondroplasia is the most common and best-known type of short-limbed dwarfism, but there are many other distinct types, which differ widely in genetic background, course, and prognosis. […] There are many types, which differ widely in genetic background, course, and prognosis, but all cause markedly short stature and often disproportionate growth of the trunk and extremities. […] Osteochondrodysplasias are inherited abnormalities of growth and development of connective tissue, bone, and/or cartilage.

• #2 Achondroplasia – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK559263/

  Achondroplasia is a rare genetic disorder recognized as the most common primary skeletal dysplasia in humans. This form of dysplasia accounts for greater than 90% of cases of disproportionate short stature, also known as dwarfism. […] Achondroplasia results from a point mutation in the gene coding for the transmembrane portion of fibroblast growth factor receptor 3 (FGFR3), which resides on the short arm of chromosome 4. […] In over 80% of cases, the condition occurs due to sporadic, or de novo, mutation. Thus, a child with achondroplasia can be born to healthy parents with no family history of the disorder. […] The remaining 20% of achondroplastic individuals have at least one affected parent. […] Achondroplasia is inherited in an autosomal dominant manner. It is fully penetrant, meaning all individuals who have the FGFR3 heterozygous pathogenic variant show the clinical manifestations of the disorder.

• #2 Achondroplasia – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK559263/

  The unprecedented homogeneity of mutations of this autosomal dominant disorder leads to the relative lack of heterogeneity in the achondroplasia phenotype. […] One well-known risk factor for producing offspring with the de novo mutation is advanced paternal age, with the mutation thought to occur during spermatogenesis. An increased risk of achondroplasia is not associated with older maternal age, independently of the older paternal ages. […] Achondroplasia accounts for greater than 90% of cases of dwarfism. Although it follows an autosomal dominant pattern of inheritance with a 100% penetrant, over 80% of cases arise from a spontaneous mutation.

• #2 Achondroplasia – Wikipedia

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

  The frequency of mutations in sperm leading to achondroplasia increases in proportion to paternal age, as well as in proportion to exposure to ionizing radiation. […] The occurrence rate of achondroplasia in the children of fathers over 50 years of age is 1 in 1,875, compared to 1 in 15,000 in the general population. […] Where achondroplasia is inherited, its pattern is autosomal dominant. […] In couples where one partner has achondroplasia there is a 50% chance of passing the disorder on to their child every pregnancy. […] In situations where both parents have achondroplasia there is a 50% chance the child will have achondroplasia, 25% chance the child will not, and a 25% chance that the child will inherit the gene from both parents resulting in double dominance and leading to lethal bone dysplasia.

• #2 Dwarfism: Types, Causes, Treatments, and More

  https://www.webmd.com/children/dwarfism-causes-treatments

  Diastrophic dysplasia is a rare form of dwarfism. […] Turner syndrome is a genetic condition that only affects females. Its caused by a missing or partial X chromosome. […] Skeletal dysplasia is caused by a genetic mutation. The gene mutation can occur spontaneously or can be inherited. […] Achondroplasia, on the other hand, is inherited in a dominant manner. […] Along with genetic skeletal dysplasia, short stature has other causes, including disorders of the pituitary, which influence growth and metabolism; kidney disease; and problems that affect the body’s ability to absorb nutrients.

• #2 How is dwarfism inherited? – The Tech Interactive

  https://www.thetech.org/ask-a-geneticist/articles/2014/inheriting-dwarfism/

  Dwarfism usually (but not always) runs in families too. But it doesnt always get passed in the same way scientists have found around 200 different ways so far. […] Dwarfism comes in two broad categories dominant and recessive. […] The most common type of dwarfism is dominant. To end up with this type, you usually have to have a parent with dwarfism. […] So that leaves the rarer, recessive types of dwarfism. If your dad has this type of dwarfism, then there is a chance you could pass it on to your kids. […] If neither of your parents has dwarfism, you cannot inherit the most common form of dwarfism from your grandparent. But there are some rarer forms that can be passed on like this. […] To end up with recessive dwarfism, you need to get it from both mom and dad. This means that both you and your partner need to carry a hidden version of this condition.

• #2 Achondroplasia: Causes, Symptoms, and Diagnosis

  https://www.healthline.com/health/achondroplasia

  About 20 percent of cases are inherited. The mutation follows an autosomal dominant inheritance pattern. This means that only one parent needs to pass down a defective FGFR3 gene for a child to have achondroplasia. […] If one parent has the condition, the child has a 50 percent chance of getting it. […] If both parents have the condition, the child has a 25 percent chance of normal stature, a 50 percent chance of having one defective gene that causes achondroplasia, and a 25 percent chance of inheriting two defective genes, which would result in a fatal form of achondroplasia called homozygous achondroplasia. […] Infants born with homozygous achondroplasia are usually stillborn or die within a few months of being born.

• #2 Primordial Dwarfism Causes & Symptoms

  https://www.nemours.org/conditions-treatments/primordial-dwarfism/about-primordial-dwarfism.html

  What Causes MOPDII? Everyone has two copies of a gene called pericentrin (PCNT). MOPDII results when there is a gene change (mutation) in each copy of an individuals pericentrin gene, causing both copies to not work as they usually do. […] MOPDII has an autosomal recessive inheritance pattern. This means that the genetic information from both parents is necessary for the child to have MOPDII, and there would be a 25% recurrence chance in future pregnancies.

• #2 Achondroplasia: Symptoms, Treatment, Causes & Diagnosis

  https://my.clevelandclinic.org/health/diseases/22183-achondroplasia

  Achondroplasia is caused by a gene mutation in the receptor that converts cartilage to bone during fetal development. […] Most cases of achondroplasia are not inherited. Anyone can be affected by achondroplasia. Around 80% of individuals with achondroplasia have parents of normal height and are born with a new gene alteration (de novo mutation). […] Only one parent needs to pass down the gene for a child to be born with achondroplasia (autosomal dominant). There is a 50% chance of a person with achondroplasia and a partner who does not have achondroplasia having a child with the disorder. […] If both parents have achondroplasia, there is a 25% chance that the child will be born with homozygous achondroplasia, which leads to stillbirth or death shortly after birth.

• #2 Dwarfism – Wikipedia

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

  Dwarfism can result from many medical conditions, each with its own separate symptoms and causes. […] Extreme shortness in humans with proportional body parts usually has a hormonal cause, such as growth hormone deficiency, once called pituitary dwarfism. […] Achondroplasia is responsible for the majority of human dwarfism cases, followed by spondyloepiphyseal dysplasia and diastrophic dysplasia. […] The most recognizable and most common form of dwarfism in humans is achondroplasia, which accounts for 70% of dwarfism cases, and occurs in 4 to 15 out of 100,000 live births. […] It produces rhizomelic short limbs, increased spinal curvature, and distortion of skull growth. […] Growth hormone deficiency (GHD) is a medical condition in which the body produces insufficient growth hormone.

• #2 Pituitary Dwarfism – symptoms, Definition, Description, Demographics, Causes and symptoms, Diagnosis, Treatment

  http://www.healthofchildren.com/P/Pituitary-Dwarfism.html

  Pituitary dwarfism is caused by problems arising from the pituitary gland. […] Pituitary dwarfism can be caused by: genetics, accident-related trauma to the pituitary gland, surgical injury of the pituitary, central nervous system tumor, central nervous system trauma, central nervous system radiation, leukemia. […] In most cases, the cause of dwarfism is not known (idiopathic). […] At its most basic, pituitary dwarfism results from decreased production of hormones by the anterior pituitary. […] A common form of pituitary dwarfism is due to deficiencies in the production of growth hormone (GH). […] Since growth is a complex phenomenon, it may be slowed down or stopped by abnormalities arising at any point in the process. Thus, dwarfism can result if there is a deficiency in any of these hormones, if there is a failure in the receptor cells receiving the hormonal stimuli, or if the target cells are unable to respond.

• #2 Dwarfism | PPT

  https://www.slideshare.net/slideshow/dwarfism-76761121/76761121

  Dwarfism is caused by a deficiency in growth hormone or abnormalities in bones and cartilage. It results in short stature, with adult height usually under 4’10”. The most common form is achondroplasia, which causes short limbs and an average size trunk. Other types include pituitary dwarfism and skeletal dysplasias. Dwarfism can be diagnosed through ultrasounds and genetic testing, though there is no cure – treatment focuses on managing health issues. […] Reduction in GH secretion in infancy or early childhood causes dwarfism. It occurs because of the following reasons: I. Tumor of chromophobes, which compresses and destroys the normal cells secreting GH II. Deficiency of GH-releasing hormone secreted by hypothalamus III. Deficiency of somatomedin C IV. Atrophy or degeneration of acidophilic cells in the anterior pituitary.

• #2 Genomia: Testing of dogs: Dwarfism

  https://www.genomia.cz/en/test/dwarf/

  Pituitary dwarfism, also called nanism, is a metabolic disorder that affects German shepherds, Saarloos Wolfdogs, Czechoslovakian Wolfdogs and Tibetan Terrier. The dwarfism is caused by mutation of LHX3-gene on CFA9 chromosome coding for transcription factor that precludes effective expansion of a pituitary stem cell after the differentiation of the corticotrope cells. Mutation, that causes Dwarfims, is inherited as autosomal recessive. The disease develops in individuals, who inherit the mutated gene from both parents. The affected dogs can have normal size during the first weeks of their lives. The pituitary insufficiency is a severe disorder having impact on other body organs. The prognosis is poor without the right treatment.

• #2 Dwarfism – MD Searchlight

  https://mdsearchlight.com/genetic-disorders/dwarfism/

  The Utah Study revealed that hormonal disorders only account for a small percentage of short stature cases. […] The conditions that a doctor needs to rule out when diagnosing Dwarfism are: – Lack of growth hormone – Congenital hypothyroidism – Cushing’s syndrome – Hypogonadism – Down’s syndrome – Turner’s syndrome – Noonan’s syndrome – Prader-Willi syndrome – Russell-Silver syndrome – Diseases linked with the short stature homeobox gene deficiency – Achondroplasia – Diastrophic dysplasia – Spondyloepiphyseal dysplasia – Chronic kidney deficiency – Chronic malnutrition – Cystic fibrosis – Juvenile arthritis – Inflammatory bowel disease – Celiac disease – Immune diseases – Metabolic diseases – Certain cancers – Treatments with glucocorticoids. […] Dwarfism can be treated through hormone therapy, specifically recombinant human growth hormone therapy (rhGH). […] Additionally, surgical treatment may be necessary for cases involving brain tumors, but procedures aimed at lengthening limbs are generally not recommended due to high risks of serious complications and death.

• #2 Dwarfism – Wikipedia

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

  Other causes of dwarfism are spondyloepiphyseal dysplasia congenita, diastrophic dysplasia, pseudoachondroplasia, hypochondroplasia, Noonan syndrome, primordial dwarfism, Cockayne syndrome, Kniest dysplasia, Turner syndrome, osteogenesis imperfecta (OI), and hypothyroidism. […] Severe shortness with skeletal distortion also occurs in several of the mucopolysaccharidoses and other storage disorders. […] Hypogonadotropic hypogonadism may cause proportionate, yet temporary, dwarfism.

• #2 Growth Problems in Children

  https://www.nationwidechildrens.org/conditions/health-library/growth-problems-in-children

  Growth disorders can have many causes. They usually fall into 1 of the following groups: […] Endocrine (hormone) diseases. Growth can be affected by some conditions that disrupt hormones. Thyroid hormone is essential for normal bone growth. The pituitary gland in the brain secretes several hormones, including growth hormone. Growth hormone deficiency can result from injuries to the pituitary gland or brain. Cushing syndrome can impair height and cause weight gain. Precocious puberty is a condition caused by hormone problems. It often causes fast growth and tall height compared with other children of the same age. But growth stops at an early age. As a result, children with precocious puberty may be short as adults. […] Genetic disorders. This includes Turner syndrome, Down syndrome, and achondroplasia. Turner syndrome happens when one X chromosome is missing. This genetic disorder occurs only in girls. It causes poor growth and delayed or no puberty. Down syndrome is another common genetic disorder causing poor growth and short stature. It results from an extra 21st chromosome. Achondroplasia is the most common type of dwarfism, resulting in a problem changing cartilage to bone. It causes a child’s arms and legs to be short. It also causes a large head and other features. […] Many disorders that can cause growth problems are idiopathic. That means their cause may not be fully known or understood. […] Growth disorders have many causes. They can include genes, illness, or problems with hormones.

• #2 Primordial Dwarfism (for Parents) | Nemours KidsHealth

  https://kidshealth.org/en/parents/primordial-dwarfism.html

  People with primordial dwarfism have slowed growth that begins before birth and continues throughout life. Several health conditions can lead to primordial dwarfism. […] Primordial dwarfism happens as part of a genetic (inherited) syndrome such as Seckel syndrome, Russell-Silver syndrome, or microcephalic primordial dwarfism type II (MOPD II). These syndromes are caused by gene mutations (changes). Sometimes the gene mutation is inherited from parents. Sometimes, neither parent had a changed gene, and the condition is due to a new (or spontaneous) genetic mutation that happened before birth.

• #2 Restricted growth (dwarfism)

  https://www.nhs.uk/conditions/restricted-growth/

  Restricted growth is usually genetic, meaning it is caused by the genes passed on from your parents. […] This can just be because your parents are short themselves, or because of a genetic condition. […] Restricted growth can also be caused by hormone deficiencies or poor diet (malnutrition). […] Causes of restricted growth include: a lack of the hormone that controls growth (growth hormone deficiency), rare genetic conditions such as Turner syndrome, Noonan syndrome and Prader-Willi syndrome, problems affecting bone development (skeletal dysplasias), such as achondroplasia.

• #2 I Won’t Grow Up: The Causes of Psychogenic Dwarfism

  https://serendipstudio.org/bb/neuro/neuro01/web3/Munoz.html

  The sympathetic nervous system is also involved. An excessively active sympathetic nervous system may inhibit growth hormone secretion. Researchers have attempted to pinpoint the importance of this factor in psychogenic dwarfism by injecting a drug that blocks one part of the sympathetic nervous system. Studies have indicated that this causes an increase in growth hormone levels that eventually return to normal. Additionally, glucocorticoids play a factor. Glucocorticoids are steroid hormones that act similarly to epinephrine and serve to energize the body during periods of stress; however, unlike epinephrine that acts within seconds, glucocorticoids work over a period of hours. This suggests that perhaps glucocorticoids act to help the body recover after a stressor, or prepare for the next stressor, rather than mediating the stress response.

• #2 I Won’t Grow Up: The Causes of Psychogenic Dwarfism

  https://serendipstudio.org/bb/neuro/neuro01/web3/Munoz.html

  Some of the studies on psychogenic dwarfism indicate that emotional deprivation is the culprit. Other studies indicate that the major stressor is a result of the lack of touch. Which of these is the more important stressor? Or do both need to be present in order to initiate the psychogenic dwarfism?

• #2 Dwarfism – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK563282/

  Dwarfism is broadly categorized into two types based on the patient’s physical appearance, which are: proportionate short stature (PSS) and disproportionate short stature (DSS). […] The short stature can either be due to an underlying medical condition or a standard variant of growth. FSS, CDGP, and ISS described below can be considered as normal variants of growth, while the rest are pathological causes- […] Familial Short Stature (FSS): The child’s genetic height potential can be measured by measuring the mid-parental height, which is a child’s projected adult height based on parental height measurements. […] Constitutional delay of growth and puberty (CDGP): The child presents with short height in childhood, but attain their target height until adulthood, also known as a 'late bloomer’.

• #2 Dwarfism – MD Searchlight

  https://mdsearchlight.com/genetic-disorders/dwarfism/

  Idiopathic Short Stature (ISS) is when there’s no known reason for a child’s short height. Recent research shows that numerous genetic mutations may explain many cases that were previously unexplained. […] Endocrine disorders like Growth Hormone Deficiency often cause dwarfism. […] Various genetic disorders like Downs Syndrome and Turners syndrome are associated with short height. […] Short height can also be due to bone diseases. Achondroplasia is a genetic condition that prevents the normal development of cartilage into bone, specifically in the long bones. […] Lastly, some medical conditions that affect the whole body can also cause short height. These include poor nutrition, arthritis, bowel diseases, kidney diseases, heart and lung diseases, immune problems, metabolic diseases, cancers, and certain medication therapies.

• #2 Tmem263 deletion disrupts the GH/IGF-1 axis and causes dwarfism and impairs skeletal acquisition | eLife

  https://elifesciences.org/articles/90949

  Tmem263 deletion disrupts the GH/IGF-1 axis and causes dwarfism and impairs skeletal acquisition. […] Deletion of the Tmem263 gene in mice causes severe postnatal growth failure, proportional dwarfism, and impaired skeletal acquisition. […] The low serum IGF-1 in Tmem263-null mice is associated with reduced hepatic GH receptor (GHR) expression and GH-induced JAK2/STAT5 signaling. […] Collectively, our data validates the causal role for Tmem263 in regulating postnatal growth and raises the possibility that rare mutations or variants of TMEM263 may potentially cause GH insensitivity and impair linear growth. […] Since mutation in TMEM263 is linked to human skeletal dysplasia and dwarfism in chicken, and TMEM263 is also a GWAS candidate gene for BMD, we speculated that TMEM263 may be a novel regulator of the GH/IGF-1 axis.

• #2 Tmem263 deletion disrupts the GH/IGF-1 axis and causes dwarfism and impairs skeletal acquisition | eLife

  https://elifesciences.org/articles/90949

  Together, these data indicate that Tmem263 is required for postnatal growth and its absence causes postnatal growth retardation. […] The growth retardation and skeletal dysplasia phenotypes seen in Tmem263-KO mice strongly suggest a potential deficit in the GH/IGF-1 axis. […] Together, these data point to reduced hepatic GHR expression and GHI as potentially contributing to growth failure and skeletal dysplasia seen in the Tmem263-KO animals. […] Altogether, these transcriptomic data provide supporting evidence that the underlying cause of the severe growth retardation and skeletal dysplasia seen in Tmem263-KO mice is most likely attributed to disrupted GH signaling in the liver and possibly other organs such as the bone. […] It is tempting to speculate on the possibility that rare homozygous loss-of-function mutations and variants of TMEM263 may cause Laron-type dwarfism with characteristic GHI.

• #2 Deletion in the EVC2 Gene Causes Chondrodysplastic Dwarfism in Tyrolean Grey Cattle | PLOS One

  https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0094861

  The molecular basis of a number of bovine chondrodysplasias has been determined. […] A deletion in the EVC2 gene causes chondrodysplastic dwarfism. […] The mutation is predicted to cause a frameshift and premature stop codon beginning with amino acid residue 998 in the bovine EVC2 protein sequence (p.Asp998GlufsTer13). […] Given the known functions of the EVC2 gene, and the effects of EVC2 mutations in humans and cattle we conclude that the identified 2 bp deletion is causative for chondrodysplastic dwarfism in Tyrolean Grey cattle. […] In conclusion, the identification of a causative mutation for dwarfism in Tyrolean Grey cattle provides an additional naturally occurring animal model for human Ellis-van Creveld syndrome due to EVC2 mutations.

• #3 Achondroplasia: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/achondroplasia/

  Achondroplasia is the most common form of short-limbed dwarfism. […] Achondroplasia is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. […] Variants (also called mutations) in the FGFR3 gene cause achondroplasia. […] Two specific variants in the FGFR3 gene are responsible for almost all cases of achondroplasia. […] These variants cause the FGFR3 protein to be overly active, which interferes with skeletal development and leads to the disturbances in bone growth seen with this disorder.

• #3 Dwarfism | PPT

  https://www.slideshare.net/slideshow/dwarfism-76761121/76761121

  Laron dwarfism occurs due to the presence of abnormal growth hormone secretagogue (GHS) receptors in liver. GHS receptors become abnormal because of the mutation of genes for the receptors. GH secretion is normal or high. But the hormone cannot stimulate growth because of the abnormal GHS receptors. […] Dwarfism occurs if the child is exposed to extreme emotional deprivation or stress. The short stature is because of deficiency of GH. This type of dwarfism is called psychogenic dwarfism, psychosocial dwarfism or stress dwarfism. […] Most types of dwarfism are known as Skeletal Dysplasias-conditions of abnormal bone growth. They’re divided into two types: I. Short-Trunk: -Those have a shortened trunk with more average-sized limbs II. Short-Limb: -Those have an average-sized trunk but shortened arms and legs.

• #3 Dwarfism: Types, causes, and information

  https://www.medicalnewstoday.com/articles/320286

  Dwarfism has many different causes. Several of the causes of dwarfism can lead to other health problems, such as osteoarthritis. […] Some conditions that cause dwarfism disrupt the hormones that enable the body to grow. Dwarfism can also be due to metabolic disorders or malnourishment. […] A group of conditions called skeletal dysplasias is the most common cause of dwarfism. […] Typically, skeletal dysplasias are genetic conditions. Most people with skeletal dysplasias have parents of normal stature. […] Other causes of dwarfism may be due to: organ failure that undermines the body’s ability to produce hormones or metabolize nutrients, insufficient levels of certain hormones, particularly human growth hormone (HGH), malnourishment or lack of sufficient food, resulting in growth problems. […] These are all secondary causes of dwarfism. This means they are not genetic, and may be reversible with early detection and prompt treatment.

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