Popliteal Pterygium Syndrome - Clinical Features

Clinical Features

Clinical expressions of PPS are highly variable, but include the following:

  • Limb findings: an extensive web running from behind the knee down to the heel (90%), malformed toenails, and webbed toes.
  • Facial findings: cleft palate with or without cleft lip (75%), pits in the lower lip (40%), and fibrous bands in the mouth known as syngnathia (25%).
  • Genital findings (50%): hypoplasia of the labia majora, malformation of the scrotum, and cryptorchidism.

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