Orphanet: Digito talaire dysmorfie

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Digitotalar dysmorphism

Disease definition

Digitotalar dysmorphism, also known as distal arthrogryposis type 1 (DA1), is an autosomal dominant congenital anomaly characterized by contractures of the distal regions of the hands and feet with no facial involvement or any additional anomalies. It is the most common type of distal arthrogryposis (see this term).


Classification level: Disorder
  • Synonym(s):
    • DA1
    • DA1A
    • Distal arthrogryposis type 1
  • Prevalence: 1-5 / 10 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Neonatal
  • ICD-10: Q68.8
  • OMIM: 108120  126050  614335  618435
  • UMLS: C0220662  C1852085
  • MeSH: -
  • GARD: 787
  • MedDRA: -

Detailed information


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