Popliteal pterygium syndrome
Popliteal pterygium syndrome (pronunciation: pɒplɪˈtiːəl ˈptɛrɪdʒiəm sɪnˈdroʊm) is a rare, complex genetic disorder that affects the development of the skin, muscles, and bones. The term "popliteal" refers to the area behind the knee, while "pterygium" is derived from the Greek words "pteryx" (wing) and "gyne" (woman), indicating a wing-like or webbed appearance.
Symptoms
The primary symptom of Popliteal pterygium syndrome is the presence of a skin web (pterygium) that runs down the back of the leg, across the knee joint (popliteal area). Other symptoms may include cleft lip or cleft palate, abnormalities in the external genitalia, and anomalies in the fingernails or toenails. Some individuals may also have a distinctive facial appearance with a broad nasal root and widely spaced eyes (hypertelorism).
Causes
Popliteal pterygium syndrome is caused by mutations in the IRF6 gene. This gene provides instructions for making a protein that plays a crucial role in the development of skin and tissues that form the head and face. The disorder is inherited in an autosomal dominant manner, meaning an affected person has a 50% chance of passing the disorder to each of their children.
Diagnosis
Diagnosis of Popliteal pterygium syndrome is based on a clinical examination and confirmed by genetic testing to identify a mutation in the IRF6 gene.
Treatment
Treatment for Popliteal pterygium syndrome is symptomatic and supportive. It may include surgery to remove the skin web and to correct cleft lip or palate, as well as other physical anomalies. Genetic counseling may be beneficial for affected individuals and their families.
See also
External links
- Medical encyclopedia article on Popliteal pterygium syndrome
- Wikipedia's article - Popliteal pterygium syndrome
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