x

Search for a rare disease

* (*) mandatory field

Other search option(s)

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.

Orphanet doesn't provide personalised answers. To get in touch with the Orphanet team, please contact

Information provided in your contribution (including your email address) will be stocked in .CSV files that will be sent as an email to Orphanet's teams. These emails might be conserved in the teams' mailboxes, in our backoffice servers but will not be registered in our databases (for more information see our section General Data Protection Regulation and data privacy (GDPR) and Confidentiality).

Captcha image

Distal arthrogryposis type 1

Disease definition

A form of arthrogryposis characterized by contractures of the distal regions of the hands and feet in the absence of a primary neurological and/or muscle disease affecting limb function. Facial involvement is limited to a small mouth and impaired mouth opening. No additional anomalies are reported.

ORPHA:1146

Classification level: Disorder
  • Synonym(s):
    • DA1
    • Digitotalar dysmorphism
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant 
  • Age of onset: Antenatal, Neonatal
  • ICD-10: Q68.8
  • OMIM: 108120  126050  614335  618435  619110
  • UMLS: C0220662  C1852085
  • MeSH: -
  • GARD: 787
  • MedDRA: -

Detailed information

Professionals

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.