Autosomal recessive multiple pterygium syndrome
Autosomal recessive multiple pterygium syndrome
Definition
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.
Also known as autosomal recessive multiple pterygium syndrome, autosomal recessive non-lethal multiple pterygium syndrome, Escobar syndrome, Escobar variant multiple pterygium syndrome, EVMPS, multiple pterygium syndrome, autosomal recessive — per MONDO