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Autosomal recessive multiple pterygium syndrome

Disease definition

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.


Classification level: Disorder
  • Synonym(s):
    • Autosomal recessive non-lethal multiple pterygium syndrome
    • EVMPS
    • Escobar syndrome
    • Escobar variant multiple pterygium syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Antenatal, Infancy, Neonatal
  • ICD-10: Q79.8
  • ICD-11: LD26.40
  • OMIM: 265000  618469
  • UMLS: -
  • MeSH: -
  • GARD: 7111
  • MedDRA: -

Detailed information


ERN produced/endorsed by ERN(s)   FSMR produced/endorsed by FSMR(s)
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