Orphanet: Autosomal dominant multiple pterygium syndrome

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Autosomal dominant multiple pterygium syndrome

Disease definition

A rare distal arthrogryposis syndrome characterized by multiple pterygia (typically involving the neck, axilla and popliteal areas), joint contractures, ptosis, camptodactyly of the hands with hypoplastic flexion creases, vertebral fusions, severe scoliosis and short stature.


Classification level: Disorder
  • Synonym(s):
    • Distal arthrogryposis type 8
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Childhood
  • ICD-10: Q79.8
  • OMIM: 178110
  • UMLS: C1867440
  • MeSH: -
  • GARD: -
  • MedDRA: -
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