Ehlers-Danlos syndrome, kyphoscoliotic type 1
Ehlers-Danlos syndrome, kyphoscoliotic type 1
Definition
A form of Ehlers-Danlos syndrome characterized by severe hypotonia and kyphoscoliosis at birth, generalized joint hyperextensibility and ocular globe fragility.
Also known as EDS 6, EDS, kyphoscoliotic type, EDS, oculoscoliotic type, EDS6, Ehlers-Danlos syndrome kyphoscoliotic type, Ehlers-Danlos syndrome, kyphoscoliotic type, Ehlers-Danlos syndrome, kyphoscoliotic type 1, Ehlers-Danlos syndrome, oculoscoliotic type, Ehlers-Danlos syndrome, type 6, kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency, nevo syndrome — per MONDO