Autosomal dominant multiple pterygium syndrome

What is Autosomal dominant multiple pterygium syndrome?

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.

Other condition names

  • Distal arthrogryposis type 8

Inheritance type

Autosomal dominant


  • Worldwide: <1 in 1,000 000

Age of Onset

  • Childhood
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