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Definition

A variant form of Ehlers-Danlos syndrome characterized by short stature, skin hyperextensibility, moderate skin fragility, joint hypermobility principally in digits, developmental anomalies of the forearm bones and elbow, and bowing of extremities.

Acronym

EDSSLA

Synonyms

Defective biosynthesis of PDS
Defective biosynthesis of proteodermatan sulfate
EDSP1
Ehlers-Danlos syndrome, progeroid type, 1
Galactosyltransferase I deficiency
XGPT deficiency
Xylosylprotein 4-beta-galactosyltransferase deficiency

Keywords

Dwarfism
Ehlers-Danlos syndrome

 
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