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A form of Ehlers-Danlos syndrome, a group of connective tissue disorders characterized by skin hyperextensibility, articular hypermobility, and tissue fragility. EDSSPD1 is an autosomal recessive form characterized by short stature, developmental anomalies of the forearm bones and elbow, and bowing of extremities, in addition to the classic features of Ehlers-Danlos syndrome.




Defective biosynthesis of PDS
Defective biosynthesis of proteodermatan sulfate
Ehlers-Danlos syndrome, progeroid type, 1
Ehlers-Danlos syndrome with short stature and limb anomalies
Galactosyltransferase I deficiency
XGPT deficiency
Xylosylprotein 4-beta-galactosyltransferase deficiency


Ehlers-Danlos syndrome


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