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Autosomal dominant multiple pterygium syndrome

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Name:
Autosomal dominant multiple pterygium syndrome
Description:
A rare distal arthrogryposis syndrome characterized by multiple pterygia (typically involving the neck, axilla and popliteal areas), joint contractures, ptosis, camptodactyly of the hands with hypoplastic flexion creases, vertebral fusions, severe scoliosis and short stature.
ORPHAcode:
65743
Synonyms:
Distal arthrogryposis type 8
XREF(s):
Orphanet
ICD-10
OMIM
Analyte(s):
MYH3
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14