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trismus-pseudocamptodactyly syndrome (Hecht-Beals syndrome, Dutch-Kentucky syndrome)
Pathology:
- distal arthrogryposis
- hand & jaw contractures are caused by shortened flexor muscle- tendon units
Genetics:
- autosomal dominant
- variable expressivity but high penetrance
- associated with defects in MYH8
Clinical manifestations:
- inability to open the mouth fully (trismus)
- pseudocamptodactyly in which wrist dorsiflexion, but not volar flexion, produces involuntary flexion contracture of distal & proximal interphalangeal joints
- similar lower-limb contractures also produce foot deformity
Complications:
- trismus complicates dental care, feeding during infancy, & intubation for anesthesia
- pseudocamptodactyly impairs manual dexterity, with consequent occupational & social disability
Management:
- many patients require surgical correction of contracture
General
genetic syndrome (multisystem disorder)
Database Correlations
OMIM 158300
References
OMIM :accession 158300