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.

Also known as: EVMPS, Escobar syndrome, Escobar variant multiple pterygium syndrome, autosomal recessive multiple pterygium syndrome, autosomal recessive non-lethal multiple pterygium syndrome, multiple pterygium syndrome, autosomal recessive, multiple pterygium syndrome, multiple pterygium syndrome Escobar type

5 clinical trials for this condition and its sub-types.