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Definition

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.

Acronym

EDSSPD1

Synonyms

Defective biosynthesis of PDS
Defective biosynthesis of proteodermatan sulfate
EDSP1
EDSSLA
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

Keywords

Dwarfism
Ehlers-Danlos syndrome

 
Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice.

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Main funding by: National Institutes of Health

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