Ehlers-Danlos syndrome, kyphoscoliotic type, 2
Ehlers-Danlos syndrome, kyphoscoliotic type, 2
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.
Also known as EDS with progressive kyphoscoliosis, myopathy, and deafness, EDS with progressive kyphoscoliosis, myopathy, and hearing loss, EDS, kyphoscoliotic and hearing loss type, Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and deafness, Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss, Ehlers-Danlos syndrome, kyphoscoliotic and deafness type, Ehlers-Danlos syndrome, kyphoscoliotic and hearing loss type, Ehlers-Danlos syndrome, kyphoscoliotic type, 2 — per MONDO