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arthrogryposis multiplex congenita (distal arthrogryposis)
Etiology:
- genetic
- Zika virus [5]
Pathology:
- disorder of primary limb malformation without primary neurologic diseasevor muscle disease
Genetics:
- associated with mutations in gene for beta-tropomyosin (type 1)
- autosomal dominant form associated with defects in MYH3 (type 2A or Freeman-Sheldon syndrome) [4]
- associated with defects in TNNI2, TNNT3 MYH3 (distal, type 2B)
Clinical manifestations:
- bone anomalies
- hip dislocation in Zika infants [5]
- 7/7 Zika infants with microcephaly [5]
- joint contractures of the hands & feet, causing
a) medially overlapping fingers
b) clenched fists
c) ulnar deviation in the hands & fingers
d) camptodactyly
e) positional foot deformities
- vertical talus
- distinctive face characterized by a triangular shape, prominent nasolabial folds, small mouth & a prominent chin
Specific
distal arthrogryposis type 2A (Freeman-Sheldon syndrome)
distal arthrogryposis type 2B (Sheldon-Hall syndrome)
distal arthrogryposis type 9
General
arthrogryposis
skeletal dysplasia
Database Correlations
OMIM correlations
References
- OMIM :accession 108120
- OMIM :accession 108110
- OMIM :accession 601680
- OMIM :accession 193700
- van der Linden V et al
Congenital Zika syndrome with arthrogryposis: retrospective case
series study.
BMJ 2016;354:i3899
PMID: 27509902
http://www.bmj.com/content/354/bmj.i3899