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Up to: Syndromic disease · Autosomal recessive disease · Multiple congenital anomalies/dysmorphic syndrome without intellectual disability · Multiple pterygium syndrome
Autosomal recessive multiple pterygium syndrome
A rare congenital disorder, this is the non-lethal variant of multiple pterygium syndrome, characterized by orthopedic and craniofacial abnormalities, pterygium and akinethesia. The majority of cases are autosomal dominant.