Autosomal recessive multiple pterygium syndrome
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 September 2023.
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Autosomal recessive multiple pterygium syndrome?
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