/autosomal recessive multiple pterygium syndrome

autosomal recessive multiple pterygium syndrome

Rare Disease

MONDO:0009926

Also Known As

EVMPSEscobar syndromeEscobar variant multiple pterygium syndromeautosomal recessive multiple pterygium syndromeautosomal recessive non-lethal multiple pterygium syndromemultiple pterygium syndrome, autosomal recessivemultiple pterygium syndromemultiple pterygium syndrome Escobar typemultiple pterygium syndrome nonlethal typemultiple pterygium syndrome, ESCOBAR variantmultiple pterygium syndrome, Nonlethal typepterygium Universalepterygium colli syndromepterygium syndromepterygium universale

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.