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This is a very rare birth defect that is characterized by low birth weight and distinctive malformations of the head and facial area; abnormal skin patches on the neck; abnormalities of the eyes; and premature graying of the scalp hair in adolescence. Some people with the disorder have a cleft palate or lesser form of cleft lip. Other problems can include a broad, misshapen nose and malformed ears. Eye problems may include unusually small size iris, clouding of the lenses, crossing, wide spacing, and an absence of tissue from the colored portion of the eye.  It is inherited and caused by a mutation in the TFAP2A gene.

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