1. LON-CAPA Logo
  2. Help
  3. Log In
 

Ehlers-Danlos Syndromes *

TypeClinical FeaturesInheritanceDefectGene
I GravisHyperextensible skin, hypermobile
joints, cigarette paper scars
ADAbnormal type V collagenCOL5A
IV ArterialThin translucent skin, marked bruising,
arterial and intestinal rupture
ADAbnormal type III collagenCOL3A1
VI Ocularsoft, velvety skin, ocular fragilityARLysyl hydroxylase deficiencyPLOD
*Only a partial list is shown; at least 10 types of Ehlers-Danlos Syndrome hve been described



This document maintained by Robert J.Huskey
Last update on November 21, 1999.