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.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
Newly diagnosed with
Autosomal recessive multiple pterygium syndrome?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
For a list of clinical trials in this disease area, please click here.