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Lethal multiple pterygium syndrome

Disease definition

A rare genetic multiple pterygium syndrome characterized by intrauterine growth retardation, fetal akinesia, multiple joint contractures causing severe arthrogryposis and pterygia (webbing) across multiple joints. Cystic hygroma and/or fetal hydrops are almost invariably present.

ORPHA:33108

Classification level: Disorder
  • Synonym(s):
    • Autosomal recessive lethal multiple pterygium syndrome
    • LMPS
  • Prevalence: <1 / 1 000 000
  • Inheritance: X-linked recessive or Autosomal recessive 
  • Age of onset: Antenatal
  • ICD-10: Q79.8
  • OMIM: 253290
  • UMLS: C1854678
  • MeSH: C537378
  • GARD: 3834
  • MedDRA: -
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