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distal arthrogryposis type 2B (Sheldon-Hall syndrome)
Epidemiology:
- rare
- most common of the distal arthrogryposis syndromes
Genetics:
- associated with defects in TNNI2, TNNT3 MYH3
Clinical manifestations:
- vertical talus
- ulnar deviation in the hands
- severe camptodactyly
- distinctive face characterized by a triangular shape
a) prominent nasolabial folds
b) small mouth & a prominent chin
c) similar to distal arthrogryposis type 2A but the facial contractures are less dramatic
General
arthrogryposis multiplex congenita (distal arthrogryposis)
Database Correlations
OMIM 601680
References
OMIM :accession 601680