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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.

ORPHA:65743

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: -

Additional information

Further information on this disease

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