Distal arthrogryposis type 1

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Name:
Distal arthrogryposis type 1
Description:
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.
ORPHAcode:
1146
Synonyms:
DA1
Digitotalar dysmorphism
XREF(s):
Analyte(s):
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14