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Trismus-pseudocamptodactyly syndrome

Disease definition

A rare, genetic, distal arthrogryposis characterized by pseudocamptodactyly, mild foot deformities, moderately short stature, and short muscles and tendons resulting in a limited range of motion of the hands, legs, and mouth, the later presenting with trismus.

ORPHA:3377

  • Synonym(s):
    • Distal arthrogryposis type 7
    • Dutch-Kentucky syndrome
    • Hecht syndrome
    • Hecht-Beals syndrome
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q68.8
  • OMIM: 158300
  • UMLS: C0265226
  • MeSH: -
  • GARD: 2621
  • MedDRA: -
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