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Ehlers-Danlos syndrome, kyphoscoliotic type, 2

rare

A form of Ehlers-Danlos syndrome, characterized by severe generalized hypotonia at birth with severe early-onset kyphoscolosis along with joint hypermobility (without contractures) leading to recurrent dislocations, and sensorineural hearing impairment.

Identifiers
MONDO:0013800 OMIM:614557Orphanet:300179
Causal genes
FKBP14
Part of
Kyphoscoliotic Ehlers-Danlos syndrome
Also known as
EDS with progressive kyphoscoliosis, myopathy, and deafness · EDS with progressive kyphoscoliosis, myopathy, and hearing loss · EDS, kyphoscoliotic and hearing loss type · EDSKMH · EDSKSCL2

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