/Ehlers-Danlos syndrome, kyphoscoliotic type, 2

Ehlers-Danlos syndrome, kyphoscoliotic type, 2

Rare Disease

MONDO:0013800

Also Known As

EDS with progressive kyphoscoliosis, myopathy, and deafnessEDS with progressive kyphoscoliosis, myopathy, and hearing lossEDS, kyphoscoliotic and hearing loss typeEhlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and deafnessEhlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing lossEhlers-Danlos syndrome, kyphoscoliotic and deafness typeEhlers-Danlos syndrome, kyphoscoliotic and hearing loss typeEhlers-Danlos syndrome, kyphoscoliotic type, 2EDSKMHEDSKSCL2

Definition

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.