/Ehlers-Danlos syndrome, spondylodysplastic type

Ehlers-Danlos syndrome, spondylodysplastic type

Rare Disease

MONDO:0007526

Also Known As

B4GALT7-CDGEDS, progeroid typeEhlers-Danlos syndrome progeroid typePDSdefective biosynthesis of proteodermatan sulfatedefective biosynthesis of proteodermatan sulphategalactosyltransferase I deficiencyEDSSPD1Ehlers-Danlos syndrome with short stature and limb anomaliesEhlers-Danlos syndrome, spondylodysplastic type, 1Pds, defective biosynthesis ofXGPT deficiencydermatan sulfate proteoglycandermatan sulphate proteoglycangalactosyltransferase 1 deficiencyproteodermatan sulfate, defective biosynthesis ofxylosylprotein 4-beta-galactosyltransferase deficiencyEhlers-Danlos syndrome, progeroid typeEhlers-Danlos syndrome, progeroid type (former)spondylodysplastic Ehlers-Danlos syndrome

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.