Ehlers-Danlos syndrome spondylodysplastic type 1 (DOID:0080738)
Alliance: disease page
Alt IDs: OMIM:130070
Definition: An Ehlers-Danlos syndrome that is characterized by short stature, developmental anomalies of the forearm bones and elbow, and bowing of extremities, in addition to the classic stigmata of Ehlers-Danlos syndrome, including joint laxity, skin hyperextensibility, and poor wound healing and that has_material_basis_in homozygous or compound heterozygous mutation in the B4GALT7 gene on chromosome 5q35.