Ehlers-Danlos syndrome- progeroid form
Overview
A connective tissue disorder caused by an enzyme (xylosylprotein 4-beta-galactosyl transferase) deficiency.
Symptoms
* Delayed mental development * Short stature * Osteopenia * Dysplasia of some bones * Defective primary teeth
Causes
Progeroid type Ehlers-Danlos (E-D) syndrome was reported to be caused by defects in galactosyltransferase I (EC 2.4.1.133), which is involved in the synthesis of common linkage regions of proteoglycans.