Ehlers-Danlos syndrome, spondylodysplastic type
Ehlers-Danlos syndrome, spondylodysplastic type
Definition
A form of Ehlers-Danlos syndrome characterized by a premature aging with sparse hair, macrocephaly, loose elastic skin, failure to thrive, joint laxity, psychomotor retardation, hypotonia, and defective wound healing with atrophic scars.
Also known as B4GALT7-CDG, defective biosynthesis of proteodermatan sulfate, defective biosynthesis of proteodermatan sulphate, EDS, progeroid type, galactosyltransferase I deficiency, PDS — per MONDO