Ehlers-Danlos syndrome musculocontractural type
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Genetics
- associated with defects in CHST14
Clinical manifestations
- distinctive craniofacial dysmorphism
- congenital contractures of thumbs & fingers
- clubfeet
- severe kyphoscoliosis
- muscular hypotonia
- hyperextensible thin skin with easy bruisability & atrophic scarring
- wrinkled palms
- joint hypermobility
- ocular involvement