What is Leri-Weill syndrome?
Léri-Weill dyschondrosteosis is a disorder of bone growth. Affected individuals typically have shortening of the long bones in the arms and legs (mesomelia). As a result of the shortened leg bones, people with Leri-Weill dyschondrosteosis typically have short stature.
How common is SHOX?
Conclusions. SHOX deficiency is frequently found (2–15%) in individuals with formerly idiopathic short stature, causes Leri-Weill syndrome (dyschondrosteosis) in the majority of cases, and is involved in the short stature phenotype of Turner syndrome.
What is SHOX deletion?
Deletions of the entire SHOX gene or mutations within or near the gene have been identified in some people with short stature. This short stature is usually described as idiopathic, which means it is not associated with the characteristic features of a disease or syndrome.
What causes Langer Mesomelic dysplasia?
The most common cause of Langer mesomelic dysplasia is a deletion of the entire SHOX gene. Other genetic changes that can cause the disorder include mutations in the SHOX gene or deletions of nearby genetic material that normally helps regulate the gene’s activity.
What is Dyschondrosteosis syndrome?
Leri-Weill dyschondrosteosis (LWD) is a rare genetic disorder characterized by abnormal shortening of the forearms and lower legs, abnormal misalignment of the wrist (Madelung deformity of the wrist), and associated short stature, which is defined as a child who has a height below percentile 3 (P3) for age, gender and …
Is Madelung deformity rare?
Madelung’s deformity is a rare arm condition that affects the growth plate of the radius, a bone in the forearm. As a child grows, this abnormal growth results in a misalignment where the two long bones of the forearm (the radius and ulna) meet the bones of the wrist.
What does SHOX gene stand for?
SHOX is a gene (short stature homeobox-containing gene), which plays an important role in bone growth and development.
Is idiopathic short stature?
Idiopathic short stature is a condition in which the height of the individual is more than 2 SD below the corresponding mean height for a given age, sex and population, in whom no identifiable disorder is present. It can be subcategorized into familial and non-familial ISS, and according to pubertal delay.
What is Shox mutation?
SHOX is a gene (short stature homeobox-containing gene), which plays an important role in bone growth and development. SHOX deficiency as a result of SHOX gene abnormalities causes poor growth in humans, usually in the first few years of life. It is unclear how many people are affected by SHOX Deficiency.
What is Campomelic dysplasia?
Campomelic dysplasia is a severe disorder that affects development of the skeleton, reproductive system, and other parts of the body. This condition is often life-threatening in the newborn period.