Ehlers-Danlos-syndroom van spondylodysplastisch type (aandoening)
Ehlers-Danlos-syndroom van spondylodysplastisch type
spondylodysplastische vorm van Ehlers-Danlos-syndroom spondylodysplastisch EDS spEDS
Ehlers-Danlos syndrome progeroid type
B4GALT7-related spondylodysplastic EDS (Ehlers-Danlos syndrome) Galactosyltransferase I deficiency Xylosylprotein 4-beta-galactosyltransferase deficiency Defective biosynthesis of proteodermatan sulfate
A form of Ehlers-Danlos syndrome (EDS) with characteristics of premature ageing with sparse hair, macrocephaly, loose elastic skin, failure to thrive, joint laxity, psychomotor retardation, hypotonia and defective wound healing with atrophic scars.
