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distal arthrogryposis type 2A (Freeman-Sheldon syndrome)
Genetics:
- autosomal dominant
- associated with defects in MYH3
Clinical manifestations:
- most severe form of distal arthrogryposis
- contractures of the orofacial muscles, characterized by
a) microstomia with pouting lips
b) H-shaped dimpling of the chin
c) deep nasolabial folds
d) blepharophimosis
- dysphagia
- failure to thrive
- growth deficit,
- life-threatening respiratory complications (caused by structural anomalies of the oropharynx & upper airways)
Laboratory:
- see ARUP consult [2]
General
arthrogryposis multiplex congenita (distal arthrogryposis)
Database Correlations
OMIM 193700
References
- OMIM :accession 193700
- ARUP Consult: Freeman-Sheldon Syndrome -
Distal Arthrogryposis Type 2A
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