arthrogryposis multiplex congenita (distal arthrogryposis)
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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
- medially overlapping fingers
- clenched fists
- ulnar deviation in the hands & fingers
- camptodactyly
- positional foot deformities
- vertical talus
- distinctive face characterized by a triangular shape, prominent nasolabial folds, small mouth & a prominent chin
More general terms
More specific terms
- distal arthrogryposis type 2A (Freeman-Sheldon syndrome)
- distal arthrogryposis type 2B (Sheldon-Hall syndrome)
- distal arthrogryposis type 9
References
- ↑ OMIM https://mirror.omim.org/entry/108120
- ↑ OMIM https://mirror.omim.org/entry/108110
- ↑ OMIM https://mirror.omim.org/entry/601680
- ↑ 4.0 4.1 OMIM https://mirror.omim.org/entry/193700
- ↑ 5.0 5.1 5.2 5.3 van der Linden V et al Congenital Zika syndrome with arthrogryposis: retrospective case series study. BMJ 2016;354:i3899 <PubMed> PMID: https://www.ncbi.nlm.nih.gov/pubmed/27509902 <Internet> http://www.bmj.com/content/354/bmj.i3899