Ehlers-Danlos syndrome, spondylodysplastic type
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.
MONDO:0005093
skin disorder
excluded_subClassOf
MONDO:0019704
obsolete primary bone dysplasia with decreased bone density (obsolete MONDO:0019704)
excluded_subClassOf
MONDO:0015327
developmental anomaly of metabolic origin
is_a
MONDO:0019052
inborn errors of metabolism
is_a
MONDO:0020066
Ehlers-Danlos syndrome
is_a
B4GALT7-CDG
exact
EDS, progeroid type
exact
EDSSPD1
narrow
Ehlers-Danlos syndrome with short stature and limb anomalies
narrow
Ehlers-Danlos syndrome, progeroid type (former)
related
Ehlers-Danlos syndrome, spondylodysplastic type, 1
narrow
PDS
exact
Pds, defective biosynthesis of
narrow
XGPT deficiency
narrow
defective biosynthesis of proteodermatan sulfate
exact
defective biosynthesis of proteodermatan sulphate
exact
dermatan sulfate proteoglycan
narrow
dermatan sulphate proteoglycan
narrow
galactosyltransferase 1 deficiency
narrow
galactosyltransferase I deficiency
exact
proteodermatan sulfate, defective biosynthesis of
narrow
spondylodysplastic Ehlers-Danlos syndrome
related
xylosylprotein 4-beta-galactosyltransferase deficiency
narrow
SPAP8A3.03 SPBC1921.06c