Materiały źródłowe

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

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

  Dwarfism Causes […] 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. […] Proportionate dwarfism is caused by a medical condition you have at birth or that develops in childhood that hinders growth and development. One common cause is too-low amounts of growth hormone produced by your pituitary gland. […]

• #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 | Altru Health System

  https://www.altru.org/health-library/conditions/dwarfism

  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 Dwarfism – Wikiwand

  https://www.wikiwand.com/en/articles/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. […] Achondroplasia is an autosomal dominant disorder caused by the presence of an altered allele in the genome. […] Growth hormone deficiency (GHD) is a medical condition in which the body produces insufficient growth hormone.

• #1 Achondroplasia: MedlinePlus GeneticsLock

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

  Achondroplasia is the most common form of short-limbed dwarfism. […] Variants (also called mutations) in the FGFR3 gene cause achondroplasia. The FGFR3 gene provides instructions for making a protein that is involved in the development and maintenance of bone and brain tissue. […] 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. […] 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. About 80 percent of people with achondroplasia are born to parents who do not have the condition and are of average heights; these cases are caused by new variants in the FGFR3 gene.

• #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. […] Systemic disorders: 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. […] Malnutrition can dampen the growth velocity and cause short stature.

• #1 Achondroplasia: Causes and chances of inheritance

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

  People with the achondroplasia-causing mutation in their FGFR3 gene have reduced growth in some of their bones. […] However, there is some inconclusive evidence suggesting that prenatal exposure to pollutants could increase the risk of FGFR3 gene mutations. Therefore, this is a possible risk factor for achondroplasia, although more research is necessary to confirm the association. […] Achondroplasia can pass through families because parents pass genes on to their children. There is a chance that someone with an FGFR3 gene mutation will pass it onto their child, who may then develop the condition. […] The risk of a child having achondroplasia increases if the father is over 35 years of age at the time of their birth.

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

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

  In only about an eighth of cases is the gene inherited from a parent who has achondroplasia. Rather, about seven-eighths of cases are due to a new mutation (a new change in the gene). This means that most cases of achondroplasia occur sporadically (out of the blue) and are the result of a new mutation in a sperm or ovum of one of the normal-appearing parents. The chance of a new mutation rises with the age of the father. As early as 1912 it was noted that sporadic (new) cases were more often last-born than first-born children. This fits with the fact that the chance of an achondroplastic birth has been shown to increase with paternal age (age of the father). […] Although most children with achondroplasia do not have an achondroplastic parent but have a new mutant gene for achondroplasia, they can still transmit the gene to their children, and the risk for passing that gene down to a child is 50% in each pregnancy.

• #1 Dwarfism – Wikiwand

  https://www.wikiwand.com/en/articles/dwarfism

  Growth hormone deficiency has no single definite cause. […] 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. […] NPR2 disproportionate dwarfism was discovered recently and is caused by a mutant gene.

• #1 About restricted growth ~ Restricted Growth Association UK

  https://rgauk.org/about-restricted-growth

  Hypochondroplasia appears as a milder version of achondroplasia, though it is a different condition entirely. It is usually caused by a change in the FGFR3 gene, different to the change seen in achondroplasia. […] Diastrophic Dysplasia is one of several skeletal disorders caused by mutations in the SLC26A2 gene. […] Pseudoachondroplasia is caused by a change to the COMP gene (cartilage oligomeric matrix protein). […] Spondylo-epiphyseal Dysplasia Congenita (SEDC or SED) describes several bone disorders characterised by progressive abnormalities of the spondylo or spine and the epiphyses. […] Changes in the EVC and EVC2 genes cause Ellis-van Creveld syndrome. […] Kniest dysplasia is one of a spectrum of skeletal disorders caused by mutations in the COL2A1 gene. […] Morquio Syndrome is a metabolism disorder where the body cant break down long chains of sugar molecules called glycosaminoglycans.

• #1 Primordial dwarfism – Wikipedia

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

  Primordial dwarfism (PD) is a form of dwarfism that results in a smaller body size in all stages of life beginning from before birth. […] It is known that PD is caused by inheriting a mutant gene from each parent, or from a mutation in the fetus. […] The lack of normal growth in the disorder is not due to a deficiency of growth hormone, as in hypopituitary dwarfism. […] In January 2008, it was published that mutations in the pericentrin gene (PCNT) were found to cause primordial dwarfism. […] Another gene that has been implicated in this condition is DNA2.

• #1 Restricted growth (dwarfism)

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

  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.

• #1 Dwarfism – StatPearls – NCBI Bookshelf

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

  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

  https://www.kuh.ku.edu.tr/mayo-clinic-care-network/mayo-clinic-health-information-library/diseases-conditions/dwarfism

  The cause of growth hormone deficiency can sometimes be traced to a genetic mutation or injury, but for most people with the disorder, no cause can be identified. […] Other causes of dwarfism include other genetic disorders, deficiencies in other hormones or poor nutrition. Sometimes the cause is unknown.

• #1

  https://byjus.com/neet/dwarfism/

  Achondroplasia is responsible for the bulk (70%) of genetic disorder cases. It is characterised by short limbs and distorted skull growth. It is an autosomal dominant chromosomal abnormality due to the presence of a faulty allele in the genome of a person. A pair of faulty alleles may be fatal. There is a mutation in the gene controlling the bone growth regulation, i.e. FGFR3. It results in inhibition of bone growth. […] Growth hormone deficiency (GHD) is due to inadequate production of growth hormone or somatotropin. It is a polypeptide hormone, which triggers the growth and reproduction of cells. Deficiency of GH results in stunted growth. […] Pituitary dwarfism or dwarfism is a condition that is as a result of insufficient quantities of growth hormone in the body. Children having this condition have an atypically short stature with normal proportions of the body.

• #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

  Abnormalities in thyroid function can impact overall growth and development, potentially leading to dwarfism if left untreated. […] Severe malnutrition during childhood can stunt growth and contribute to short stature. […] Certain chronic illnesses, if not properly managed, can affect growth and contribute to dwarfism. […] Dwarfism is a complex and diverse condition that encompasses various genetic and non-genetic causes.

• #1 Growth Problems | Children’s Hospital of Philadelphia

  https://www.chop.edu/conditions-diseases/growth-problems

  The cause of a growth problem depends on the type of growth disorder in question. Some growth problems are genetic, while others may be caused by hormonal disorders or poor absorption of food. […] Illnesses that affect the whole body (also called systemic diseases). Constant malnutrition, digestive tract diseases, kidney disease, heart disease, lung disease, diabetes, and severe stress can cause growth problems. […] Endocrine (hormone) diseases. Adequate production of the thyroid hormone is necessary for normal bone growth. Cushing’s syndrome, a rare condition, can be caused by a myriad of abnormalities that result in hypersecretion of corticosteroids by the adrenal gland. Growth hormone deficiency involves a problem with the pituitary gland (small gland at the base of the brain). The pituitary gland secretes several hormones, including growth hormone.

• #1 Short stature: Causes, types, and treatments

  https://www.medicalnewstoday.com/articles/170880

  A person with short stature, or restricted growth, does not grow as tall as other people of the same sex, age, and ethnicity. […] The most common cause of DSS is achondroplasia, a type of dwarfism. […] Short stature can happen for many reasons, including having short parents, malnutrition, and genetic conditions, such as achondroplasia. […] The most common cause of short stature is having parents whose height is below average, but a small percentage of children have a medical cause for their short stature. […] There are several genetic conditions that can lead to short stature, including: Noonan syndrome, Turner syndrome, Prader-Willi syndrome, Down syndrome, achondroplasia. […] Health conditions that can underlie short stature include: undernutrition due to a disease or lack of nutrients, hypothyroidism, leading to a lack of growth hormone, a tumor in the pituitary gland, diseases of the lungs, heart, kidneys, liver, or gastrointestinal tract, conditions that affect the production of collagen and other proteins, some chronic diseases, such as celiac disease and other inflammatory conditions, mitochondrial disease, which can affect the body in different ways, including growth.

• #1 About restricted growth ~ Restricted Growth Association UK

  https://rgauk.org/about-restricted-growth

  Primordial dwarfism is very rare and there are currently estimated to be a few hundred individuals with this condition worldwide. […] In Utero Growth Disorders (IUGDs), including Russell Silver Syndrome this covers a range of conditions where babies are born much smaller than other newborns. There are many reasons why this may occur, but there is often not an identifiable cause.

• #1 Dwarfism – baby, symptoms, average, Definition, Description, Demographics, Causes and symptoms

  http://www.healthofchildren.com/D/Dwarfism.html

  Parental neglect and malnourishment can cause a child to fail to grow properly. […] Some prenatal factors known to contribute to growth retardation include a variety of maternal health problems, including toxemia, kidney and heart disease, infections such as rubella and maternal malnutrition. […] Endocrine and metabolic disorders are another important cause of growth problems. […] About 15 percent of cases of short stature in children is caused by chronic diseases, of which endocrine disorders are only one type. […] Short stature can also result from a variety of conditions related to inadequate nutrition, including malabsorption syndromes, chronic inflammatory bowel disorders, caloric deficiencies, and zinc deficiency. […] There is no known way to prevent dwarfism because it results from genetic causes.

• #1 Dwarfism: Types, Causes, and More

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

  Though there are many different causes of dwarfism, there are two main types of the condition: proportionate and disproportionate. […] Researchers believe there are more than 300 conditions that cause dwarfism. Most causes are genetic. The most common causes include: […] The reasons for growth hormone deficiency aren’t always clear. Sometimes it’s tied to a genetic mutation. In many cases, the reasons for growth hormone deficiency are never diagnosed. […] Dwarfism is usually the result of a genetic mutation. But having a gene or genes responsible for dwarfism can occur in a couple of ways. […] Other risk factors for dwarfism include a hormone deficiency or malnutrition. […] For people with growth hormone deficiency, injections of synthetic human growth hormone may be helpful. […] Girls with Turners syndrome need estrogen therapy and other hormones to help trigger puberty and appropriate female development.

• #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 Achondroplasia Information | Mount Sinai – New York

  https://www.mountsinai.org/health-library/diseases-conditions/achondroplasia

  Achondroplasia is caused by a change (mutation) in the fibroblast growth factor receptor 3 (FGFR3) gene. This prevents bone growth and mainly affects the long bones in the arms and legs. […] Achondroplasia may be inherited as an autosomal dominant trait. This means that if a child gets the defective gene from one parent, the child will have the disorder. If one parent has achondroplasia, the infant has a 50% chance of inheriting the disorder. If both parents have the condition, the infant’s chance of being affected increases to 75%. […] However, most cases (about 80%) appear as spontaneous mutations. This means that two parents without achondroplasia may give birth to a baby with the condition. […] Genetic counseling may be helpful for prospective parents when one or both have achondroplasia. However, because achondroplasia most often develops spontaneously, prevention is not always possible.

• #1 Dwarfism | Better Health Channel

  https://www.betterhealth.vic.gov.au/health/conditionsandtreatments/dwarfism

  Dwarfism is a disorder characterised by shorter than normal skeletal growth. It can be genetic. […] Over 100 different conditions can cause dwarfism. […] About 80 per cent of people born with achondroplasia have average-sized parents. This means that the genetic mutation that causes achondroplasia occurs during conception, when the mother’s egg is fertilised by the father’s sperm. It is not known why this genetic mutation occurs, or how the mutation translates into the characteristics of achondroplasia. […] Twenty per cent of people born with achondroplasia inherit the faulty gene from an affected parent. If one parent has achondroplasia, then their child has a 50 per cent chance of inheriting the gene for the condition. If both parents have achondroplasia, their child has: […] a one in four risk of inheriting the faulty gene from both parents, which causes a fatal condition known as 'double dominant’ or homozygous achondroplasia. […] Children born with this variation generally don’t live beyond 12 months of age.

• #1

  https://specialeducationnotes.co.in/Dwarfism.htm

  The cause of growth hormone deficiency can sometimes be traced to a genetic mutation or injury, but for most people with the disorder, no cause can be identified. […] Other causes of dwarfism include other genetic disorders, deficiencies in other hormones or poor nutrition. Sometimes the cause is unknown. […] Skeletal dysplasia is caused by a genetic mutation. The gene mutation can occur spontaneously or can be inherited. […] Diastrophic dysplasia and usually spondyloepiphyseal dysplasias are inherited in a recessive manner. This means a child must receive two copies of the mutated gene — one from the mother, one from the father — to be affected. […] Achondroplasia, on the other hand, is inherited in a dominant manner. That means a child needs only one copy of the mutated gene to have that form of skeletal dysplasia. There is a 25% chance that a child born to a couple in which both members have achondroplasia will be of normal height. But there is also a 25% chance the child will inherit both dwarfism genes, a condition known as double-dominant syndrome. This is a fatal condition that usually results in miscarriage.

• #1 Dwarfism // Middlesex Health

  https://middlesexhealth.org/learning-center/diseases-and-conditions/dwarfism

  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. […] About 80% of people with achondroplasia are born to parents of average height. A person with achondroplasia who had two average-sized parents received one changed gene related to the condition and one regular gene. A person with achondroplasia may pass along a changed gene related to the condition or a regular gene to their children. […] Sometimes low levels of growth hormones can be traced to a genetic change or injury. But for most people with low hormone levels, no cause is found. […] Other causes of dwarfism include other genetic conditions, low levels of other hormones, or poor nutrition. Sometimes the cause is not known.

• #1

  https://specialeducationnotes.co.in/Dwarfism.htm

  Often parents of children with achondroplasia do not carry the mutated gene themselves. The mutation in the child occurs spontaneously at the time of conception. […] Doctors do not know what causes a gene to mutate. It is a seemingly random occurrence that can happen in any pregnancy. When average-size parents have a child with dwarfism due to a spontaneous mutation, it is not likely that other children will also have the mutation. […] In addition to 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 Novel Insights Into the Genetic Causes of Short Stature in Children – touchENDOCRINOLOGY

  https://touchendocrinology.com/pediatric-endocrinology/journal-articles/novel-insights-into-the-genetic-causes-of-short-stature-in-children/

  A diagnostic approach that combines clinical, endocrine and genetic assessment is important in establishing a correct aetiology of the disease. […] The purpose of this article is to describe the main monogenic causes of short stature, which, thanks to advances in molecular genetics, are assuming an increasingly important role in the clinical approach to short children. […] Genetic mutations can lead to alterations not only of hormonal components, but also of fundamental cellular processes such as intracellular signalling pathways, transcriptional regulation and DNA repair, extracellular matrix or paracrine signalling. […] The GH-IGF-1 axis is a fundamental component of normal growth. Anomalies in this pathway commonly lead to GH or IGF-1 deficiency. […] However, recently other genes not involved in the GH-IGF-1 axis have also been associated with monogenic short stature.

• #2 Dwarfism: Definition, Causes and symptoms

  https://allen.in/neet/biology/dwarfism

  Dwarfism is caused by various genetic and, in some cases, environmental factors. Here are the primary causes of dwarfism: […] Dwarfism can be caused by genetic mutations, hormonal imbalances, or skeletal dysplasias that affect bone growth. […] There are over 400 different types of dwarfism, including achondroplasia, spondyloepiphyseal dysplasia, diastrophic dysplasia, and others, each with distinct genetic or developmental causes.

• #2 Restricted growth (dwarfism)

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

  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

  https://www.gleneagles.com.sg/conditions-diseases/dwarfism/symptoms-causes

  Dwarfism may be due to a genetic or medical condition. […] There are many types of dwarfism. Most dwarfism-related conditions are genetic disorders, although hormonal disorders may account for some as well. […] Achondroplasia is the most common form of dwarfism, accounting for about 70% of cases. […] 80% of achondroplasia cases are due to a mutation in the gene (FGFR3) on the fathers side. Hence, it can occur in parents who are of normal height. Advanced paternal age is a risk factor for achondroplasia. […] Growth hormone deficiency is an example of a hormonal condition that causes dwarfism. Generally, there is no identifiable cause for a lack of growth hormones during childhood. Although, some conditions have been known to be associated with growth hormone deficiency.

• #2 Achondroplasia: Causes and chances of inheritance

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

  Achondroplasia is a rare genetic disorder that causes short stature and bowed legs. It is the result of a genetic mutation that is more likely to arise in the children of older men. […] Dwarfism refers to restricted growth that is due to medical or genetic causes. Although dwarfism has a range of possible causes, about 90% of cases are the result of achondroplasia. This genetic disorder can pass through families, but most people have achondroplasia without having a parent who shares the condition. […] Achondroplasia is the result of a mutation in the FGFR3 gene. […] The FGFR3 gene provides instructions for the fibroblast growth factor 3 (FGFR3) protein. This protein influences how cells divide, mature, and form structures, such as bones. FGFR3 gene mutations cause FGFR3 to become overactive, which can affect growth.

• #2 Achondroplasia: MedlinePlus GeneticsLock

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

  Achondroplasia is the most common form of short-limbed dwarfism. […] Variants (also called mutations) in the FGFR3 gene cause achondroplasia. The FGFR3 gene provides instructions for making a protein that is involved in the development and maintenance of bone and brain tissue. […] 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. […] 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. About 80 percent of people with achondroplasia are born to parents who do not have the condition and are of average heights; these cases are caused by new variants in the FGFR3 gene.

• #2 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.

• #2 Dwarfism | healthdirect

  https://www.healthdirect.gov.au/dwarfism

  Dwarfism is a condition where a person is unusually short. […] Many different conditions result in dwarfism or restricted growth. These are often genetic conditions, but sometimes the cause is unknown. […] The most common cause of proportionate short stature is being born to small parents. However, your doctor may still want you to have tests to make sure that there are no other causes of your short stature. […] Proportionate short stature can also be caused by: your body not producing enough growth hormone, certain genetic syndromes such as Noonan syndrome, Prader-Willi syndrome and Turner syndrome. […] Achondroplasia is the most common cause of disproportionate short stature. It causes poor bone growth, resulting in short upper arms and thighs. […] Other common genetic conditions that cause disproportionate short stature are: diastrophic dysplasia, hypochondroplasia, osteogenesis imperfecta, pseudoachondroplasia, spondyloepiphyseal dysplasia congenita. […] Because there are many causes of dwarfism, including new genetic mutations, it can’t be prevented.

• #2 About restricted growth ~ Restricted Growth Association UK

  https://rgauk.org/about-restricted-growth

  Primordial dwarfism is very rare and there are currently estimated to be a few hundred individuals with this condition worldwide. […] In Utero Growth Disorders (IUGDs), including Russell Silver Syndrome this covers a range of conditions where babies are born much smaller than other newborns. There are many reasons why this may occur, but there is often not an identifiable cause.

• #2 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. […] Systemic disorders: 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. […] Malnutrition can dampen the growth velocity and cause short stature.

• #2 Dwarfism – Wikiwand

  https://www.wikiwand.com/en/articles/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. […] Achondroplasia is an autosomal dominant disorder caused by the presence of an altered allele in the genome. […] Growth hormone deficiency (GHD) is a medical condition in which the body produces insufficient growth hormone.

• #2 Dwarfism // Middlesex Health

  https://middlesexhealth.org/learning-center/diseases-and-conditions/dwarfism

  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. […] About 80% of people with achondroplasia are born to parents of average height. A person with achondroplasia who had two average-sized parents received one changed gene related to the condition and one regular gene. A person with achondroplasia may pass along a changed gene related to the condition or a regular gene to their children. […] Sometimes low levels of growth hormones can be traced to a genetic change or injury. But for most people with low hormone levels, no cause is found. […] Other causes of dwarfism include other genetic conditions, low levels of other hormones, or poor nutrition. Sometimes the cause is not known.

• #2 A to Z: Pituitary Dwarfism | Dayton Children’s Hospital

  https://www.childrensdayton.org/kidshealth/a/az-pituitary-dwarfism

  Pituitary dwarfism, or growth hormone deficiency, is a condition in which the pituitary gland does not make enough growth hormone. This results in a child’s slow growth pattern and an unusually small stature (below average height). […] Pituitary gland dysfunction can be congenital, meaning the child was born with the abnormality, or can be acquired during or after birth. It tends to run in families. […] Some causes of acquired pituitary dwarfism include brain tumors or diseases that affect the pituitary or hypothalamus, head trauma, radiation therapy for certain cancers, and an autoimmune condition called lymphocytic hypophysitis.

• #2 Growth Problems | Boston Children’s Hospital

  https://www.childrenshospital.org/conditions/growth-problems

  Endocrine (hormone) diseases, such as diabetes or a lack of thyroid hormones, which are necessary for normal bone growth […] Syndromes (genetic disorders). Growth problems may be a feature of syndromes such as Cushing’s syndrome, Turner syndrome, Down syndrome, Noonan syndrome, Russell-Silver syndrome, and Prader-Willi syndrome. […] Growth hormone deficiency. A child with this growth disorder has a problem with the pituitary gland (small gland at the base of the brain) that secretes several hormones, including growth hormone. […] Congenital (present at birth) problems in the tissues where growth occurs […] Intrauterine growth restriction (IUGR). This condition results from a fetus’s slow growth within the uterus. The baby is born smaller in weight and length than normal, in proportion to his short stature.

• #2 Dwarfism – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/sites/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. […] 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’. […] Idiopathic Short Stature (ISS): Short stature is said to be idiopathic when no other etiology like endocrine/metabolic can be determined.

• #2 Growth Problems | Boston Children’s Hospital

  https://www.childrenshospital.org/conditions/growth-problems

  Growth problems can be caused by a number of factors, including genetics, hormonal disorders, systemic illnesses, and poor absorption of food. Causes of growth problems usually fall into the following categories: […] Familial short stature, a tendency to follow the family’s inherited short stature (shortness) […] Constitutional growth delay, also known as delayed puberty. A child with this condition enters puberty later than average, but is growing at a normal rate. Most of these children tend to eventually grow to about the same height as their parents. […] Illnesses that affect the whole body, also called systemic or chronic illnesses, or illnesses that affect the digestive tract, kidneys, heart, or lungs […] Malnutrition. Constant malnutrition prevents a child from growing as tall as she could; a well-balanced diet generally prevents or corrects this. Malnutrition is the most common cause of growth failure around the world.

• #2 Growth Problems | Children’s Hospital of Philadelphia

  https://www.chop.edu/conditions-diseases/growth-problems

  The cause of a growth problem depends on the type of growth disorder in question. Some growth problems are genetic, while others may be caused by hormonal disorders or poor absorption of food. […] Illnesses that affect the whole body (also called systemic diseases). Constant malnutrition, digestive tract diseases, kidney disease, heart disease, lung disease, diabetes, and severe stress can cause growth problems. […] Endocrine (hormone) diseases. Adequate production of the thyroid hormone is necessary for normal bone growth. Cushing’s syndrome, a rare condition, can be caused by a myriad of abnormalities that result in hypersecretion of corticosteroids by the adrenal gland. Growth hormone deficiency involves a problem with the pituitary gland (small gland at the base of the brain). The pituitary gland secretes several hormones, including growth hormone.

• #2 Dwarfism – Know Your Doctor

  https://www.knowyourdoctor.com.cy/medical/dwarfism/

  Restricted growth (dwarfism) may be caused by many different medical conditions, and is more noticeable in some conditions than others. […] The main cause of proportionate short stature (PSS) is being born to small parents. A less common cause is the body not producing enough growth hormone, which is estimated to affect one in every 3,500 to 4,000 children. […] Conditions associated with disproportionate short stature (DSS) are usually caused by a faulty gene. The affected genes stop the bones and cartilage developing properly, leading to restricted growth that is often noticeable from birth. […] The most common cause of DSS is a condition called achondroplasia, which is estimated to affect around one in every 25,000 people. Other conditions that cause DSS include: long-term conditions – such as those affecting the lungs, heart or kidneys, steroid treatment for a chronic condition – such as asthma, genetic abnormalities – such as Down’s syndrome, Noonan syndrome, Turner syndrome, Prader-Willi syndrome and short stature homeobox-containing gene (SHOX) deficiency, malnutrition or poor absorption of food – for example, in coeliac disease, hypochondroplasia, mucopolysaccharide disease, diastrophic dysplasia, spondyloepiphyseal dysplasia, multiple epiphyseal dysplasia, pseudoachondroplasia, Conradi syndrome, Ellis-van Creveld syndrome.

• #2 Growth Problems | Children’s Hospital of Philadelphia

  https://www.chop.edu/conditions-diseases/growth-problems

  Congenital (present at birth) problems in the tissues where growth occurs. With a condition called intrauterine growth restriction (IUGR), slow growth within the uterus occurs during a pregnancy. This can be caused by many factors, including smoking during pregnancy. […] Having too many or too few chromosomes can result in health problems, including problems with growth. A common chromosome abnormality that results from too few chromosomes is the following: Turner syndrome is a genetic disorder seen in girls that causes them to be shorter than others and fail to develop during puberty. […] There are different bone diseases that affect height and growth, many of which are genetic. The most common is achondroplasia, a type of dwarfism in which the child’s arms and legs are short in proportion to his or her body length.

• #2

  https://www.kuh.ku.edu.tr/mayo-clinic-care-network/mayo-clinic-health-information-library/diseases-conditions/dwarfism

  The cause of growth hormone deficiency can sometimes be traced to a genetic mutation or injury, but for most people with the disorder, no cause can be identified. […] Other causes of dwarfism include other genetic disorders, deficiencies in other hormones or poor nutrition. Sometimes the cause is unknown.

• #2 What Is Dwarfism? – Klarity Health Library

  https://my.klarity.health/what-is-dwarfism/

  Intrauterine growth retardation, which occurs in the mother’s womb, is another condition that can cause dwarfism. […] Restricted growth resulting in dwarfism can be caused by various medical conditions that may lead to either proportional or disproportional dwarfism. […] Risk factors for dwarfism include malnutrition, family history, and hormone deficiency.

• #2 Dwarfism: Types, Causes, and More

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

  Dwarfism, regardless of the cause, can’t be cured or corrected. However, there are certain therapies that may help reduce the risk of complications. […] When both parents have dwarfism, the odds of a child being born with dwarfism are higher than in the general population. […] If you have achondroplasia, for example, you have one dwarfism gene and one unaffected gene. This means when both parents have achondroplasia, there is a 25 percent chance their child will inherit the unaffected gene and grow to at least an average height.

• #2 What is Dwarfism? | Types, signs, complications & treatment

  https://cpdonline.co.uk/knowledge-base/care/dwarfism/

  If both parents are affected by achondroplasia, the child will have a 25% chance of not inheriting the gene at all, a 50% chance of inheriting the condition from one parent, and a 25% chance of inheriting the gene from both parents, which results in a condition known as homozygous achondroplasia. This condition is fatal, where children do not live beyond 1 year. […] There are more than 400 types of dwarfism, and other causes include: A lack of growth hormone. A deficiency in growth hormone can affect bone growth and development. This is sometimes known as Growth Hormone Deficiency (GHD) or pituitary dwarfism. […] Malnutrition can lead to weakness in bones and muscles, which can lead to stunted growth. This can be helped with a nutritious diet.

• #2

  https://specialeducationnotes.co.in/Dwarfism.htm

  Most dwarfism-related conditions are genetic disorders, but the causes of some disorders are unknown. Most occurrences of dwarfism result from a random genetic mutation in either the father’s sperm or the mother’s egg rather than from either parent’s complete genetic makeup. […] About 80 percent of people with achondroplasia are born to parents of average height. A person with achondroplasia and with two average-size parents received one mutated copy of the gene associated with the disorder and one normal copy of the gene. A person with the disorder may pass along either a mutated or normal copy to his or her own children. […] Turner syndrome, a condition that affects only girls and women, results when a sex chromosome (the X chromosome) is missing or partially missing. A female inherits an X chromosome from each parent. A girl with Turner syndrome has only one fully functioning copy of the female sex chromosome rather than two.

• #2 Achondroplasia Information | Mount Sinai – New York

  https://www.mountsinai.org/health-library/diseases-conditions/achondroplasia

  Achondroplasia is caused by a change (mutation) in the fibroblast growth factor receptor 3 (FGFR3) gene. This prevents bone growth and mainly affects the long bones in the arms and legs. […] Achondroplasia may be inherited as an autosomal dominant trait. This means that if a child gets the defective gene from one parent, the child will have the disorder. If one parent has achondroplasia, the infant has a 50% chance of inheriting the disorder. If both parents have the condition, the infant’s chance of being affected increases to 75%. […] However, most cases (about 80%) appear as spontaneous mutations. This means that two parents without achondroplasia may give birth to a baby with the condition. […] Genetic counseling may be helpful for prospective parents when one or both have achondroplasia. However, because achondroplasia most often develops spontaneously, prevention is not always possible.

• #2

• #2 Novel Insights Into the Genetic Causes of Short Stature in Children – touchENDOCRINOLOGY

  https://touchendocrinology.com/pediatric-endocrinology/journal-articles/novel-insights-into-the-genetic-causes-of-short-stature-in-children/

  The most frequent causes of isolated GHD include mutations affecting the genes for GH (GH1) or the GH-releasing hormone receptor (GHRHR), leading to GH synthesis and secretion defects. […] The classical form is related to important growth restrictions; however, there are milder phenotypes. […] Homozygous mutations of the IGF1 gene, causing its complete loss of function, result in extreme prenatal and postnatal growth impairment and are frequently associated with various forms of microcephaly, developmental delay and sensorineural deafness due to the IGF-1 role in nervous system development in utero. […] Growth restriction may also be a consequence of the alteration of IGF-1 bioavailability. […] The release of free IGF-1 from the ternary complex is mediated by pregnancy-associated plasma protein A-2 (PAPPA-2), which is a metalloproteinase that proteolyzes IGFBP-3 and IGFBP-5.

• #3 Short stature | Find a specialist & information

  https://www.leading-medicine-guide.com/en/illness/metabolism/dwarfism

  There are many causes of short stature. The most common cause is familial short stature. In this case, it is not a disease, but a normal variant. Children of short parents also grow short themselves. […] The second most common cause is so-called constitutional developmental delay (CDD), which mainly occurs in boys. This means that there is a reduced rate of growth. The onset of puberty is delayed. Development is normal, but delayed. […] Other causes of short stature are reduced growth before birth due to a medical condition or substance abuse during pregnancy, skeletal abnormalities due to vitamin deficiency or genetic diseases, and various metabolic diseases.

• #3 Dwarfism – MD Searchlight

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

  Dwarfism can be divided into two main types, based on how a person looks: proportionate short stature (PSS) and disproportionate short stature (DSS. […] The purpose of evaluating a child with dwarfism is to identify any specific causes of their short stature and provide the appropriate interventions or treatments. […] Short height in kids can be either normal or due to a specific medical problem. Familial Short Stature, Constitutional Delay of Growth and Puberty, and Idiopathic Short Stature are examples of normal growth variations. Other causes are related to various health problems. […] Familial Short Stature (FSS) occurs when a child’s expected height is lower because of their parents’ height. […] Causes could be poor nutrition during pregnancy or childhood, or even genetics. […] 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.

• #3 Novel Insights Into the Genetic Causes of Short Stature in Children – touchENDOCRINOLOGY

  https://touchendocrinology.com/pediatric-endocrinology/journal-articles/novel-insights-into-the-genetic-causes-of-short-stature-in-children/

  Recently, the growth plate has become increasingly important in the study of genetic causes of short stature. […] Many genetic mutations of paracrine components are associated with various degrees of skeletal dysplasia. […] Activating mutations of FGFR3 lead to a wide range of phenotypes, such as thanatophoric dysplasia, achondroplasia and hypochondroplasia, related to a different mutation site. […] The most significant defect of this group is the aberration of the gene encoding short stature homeobox (SHOX). […] The function of the SHOX gene is dose dependent: the loss-of-function mutation of a SHOX allele (haploinsufficiency) causes SHOX deficiency associated with growth failure. […] Despite short stature being one of the most common reasons for consultation with a growth specialist, only a small number of short children receive a molecular diagnosis, and consequently, many children are classified as having ISS.

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