x

Search for a rare disease

* (*) mandatory field
Suggest an update

(*) Required fields.

Attention: Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.


Captcha image

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).

ORPHA:1146

  • 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  616266
  • UMLS: C0220662
  • MeSH: -
  • GARD: 787
  • MedDRA: -

Detailed information

Professionals

Additional information

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.