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References OMIM Gene GeneReviews HGMD HGNC
last update : 20-05-2015
Symbol MPTSA1
Location 17p13.1
Name multiple pterygium syndrome autosomal dominant 1
Other name(s) distal arthrogryposis type 8
Corresponding gene MYH3
Other symbol(s) DA8
Main clinical features
  • multiple pterygia of the limbs, severe scoliosis, and vertebral fusions and did not have contractures of the facial muscles
  • difficulty in opening the mouth widely, scoliosis, pectus excavatum, slight cutaneous syndactyly, malformed carpal bones, and an altered metacarpal-phalangeal pattern
  • Genetic determination autosomal dominant
    Function/system disorder neuromuscular
    Type disease