Ehlers-Danlos syndrome, spondylodysplastic type

MONDO:0007526

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.

Also known as: B4GALT7-CDG, EDS, progeroid type, PDS, defective biosynthesis of proteodermatan sulfate, defective biosynthesis of proteodermatan sulphate, galactosyltransferase I deficiency, EDSSPD1, Ehlers-Danlos syndrome with short stature and limb anomalies

0 clinical trials for this condition and its sub-types, 0 tagged with Ehlers-Danlos syndrome, spondylodysplastic type itself.

Follow this condition to get notified about new trials

Where it sits in the disease tree

Browse by category →

Part of

↑ Inborn errors of metabolism (2231) ↑ Developmental anomaly of metabolic origin (384) ↑ Ehlers-Danlos syndrome (46)

Sub-types of Ehlers-Danlos syndrome, spondylodysplastic type

Ehlers-Danlos syndrome, spondylocheirodysplastic type 0 trials
Ehlers-Danlos syndrome, spondylodysplastic type, 1 0 trials
Ehlers-Danlos syndrome, spondylodysplastic type, 2 0 trials

Including sub-types (0) Tagged with Ehlers-Danlos syndrome, spondylodysplastic type (0)

We haven't found any trials for this condition yet. Follow it to get notified when new trials appear.