About faciogenitopopliteal syndrome

What is faciogenitopopliteal syndrome?

IRF6-related disorders include a spectrum of disorders caused by abnormalities in the interferon regulatory factor 6 (IRF6) gene. Van der Woude syndrome (VWS) is at the mild end of the spectrum and popliteal pterygium syndrome (PPS) is at the severe end of the spectrum. Individuals with VWS can have lip pits alone, cleft lip or cleft palate alone, or a combination of these anomalies.

The physical features associated with PPS include cleft lip and/or cleft palate, lower lip pits, webbed skin (pterygium) on the backs of both legs (popliteal) and between the legs (intercrural), malformation and/or underdevelopment of the genitals, webbing or fusion of the fingers and/or toes (syndactyly), adhesion of upper and lower jaw (intraoral adhesions), and adhesion of upper and lower eyelids (ankyloblepharon). A cone-shaped fold of skin on the nail of the big toe is a very distinctive finding in this condition.

What are the symptoms for faciogenitopopliteal syndrome?

Webbed skin symptom was found in the faciogenitopopliteal syndrome condition

Popliteal pterygium syndrome is a condition that affects the development of the face, skin, and genitals. Most people with this disorder are born with a cleft lip and/or a cleft palate. Other symptoms may include depressions (pits) near the center of the lower lip, small mounds of tissue on the lower lip, or missing teeth. Other features may include webs of skin on the backs of the legs across the knee joint (popliteal pterygium), webbing or fusion of the fingers or toes (syndactyly), triangular shaped folds of skin over the nails of the large toes, and tissue connecting the upper and lower eyelids or the upper and lower jaw. Affected people may also have abnormal genitals. There is no growth delay and intelligence is usually normal.

What are the causes for faciogenitopopliteal syndrome?

Inheritance is autosomal dominant. It is caused by mutations in the IRF6 gene.

What are the treatments for faciogenitopopliteal syndrome?

Treatment may include reconstructive surgery for the oral defects, such as the cleft lip and cleft palate, and for other defects such as the popliteal pterygium or abnormal genitalia.

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