Autosomal recessive multiple pterygium syndrome

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Synonyms: Autosomal recessive non-lethal multiple pterygium syndrome | EVMPS | Escobar syndrome | Escobar variant multiple pterygium syndrome

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version July 2024

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