Distal arthrogrypose type 8 - Escobar type
Engelsk navn: Autosomal recessive multiple pterygium syndrome
Engelske synonym: Autosomal recessive non-lethal multiple pterygium syndrome,EVMPS,Escobar syndrome,Escobar variant multiple pterygium syndrome
Definisjon
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital pterygia (webbing) mainly affecting the neck and large joints, arthrogryposis multiplex, short stature, and craniofacial dysmorphism (including ptosis, downslanting palpebral fissures, high-arched palate, and retrognathia). Additional manifestations are decreased movements, facial weakness, respiratory distress, vertebral anomalies, scoliosis, anomalies of the fingers, and cryptorchidism, among others. The disease is a non-lethal variant of multiple pterygium syndrome.
Fra Orphanet
ORPHA: 2990
Klassifiseringsnivå: Disorder
ICD-10: Q79.8
