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Autosomal dominant popliteal pterygium syndrome

Disease definition

Autosomal dominant popliteal pterygium syndrome (AD-PPS) is a rare genetic malformative disorder characterized by cleft lip, with or without cleft palate, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail.

ORPHA:1300

  • Synonym(s):
    • Facio-genito-popliteal syndrome
    • Popliteal web syndrome
  • Prevalence: 1-9 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Neonatal
  • ICD-10: Q87.2
  • OMIM: 119500
  • UMLS: -
  • MeSH: -
  • GARD: 3242
  • MedDRA: -

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