what-when-how
In Depth Tutorials and Information
TABLE 28.1
Revised nosology of the Ehlers-Danlos syndrome
EDS I/II
Classic
EDS III
Hypermobility
EDS IV
Vascular
EDS VI
Kypho-Scoliosis
EDS VII A/B
Arthro-Chalasia
EDS VIIC
Dermato Sparaxis
Adult OI
Inheritance
AD
AD
AD
AD
AR
AD
AR
Genetic defect
Type I collagen
“quantitative
defect”
Type 5 collagen
Unknown/TNXB
Type 3 collagen
Lysyl hydroxylase
Type I collagen
“qualitative defect”
Procollagen protease
Skeletal fragility/low BMD
+/Mild
+/?
+/?
−
−
+/?
−
Blue sclera
+
+/?
+/?
+/?
+/?
+
+
Easy bruising
+
+
+
+
+
+
+
Joint hyperextensibility
+
+
+
−/Mild
+
+
+/Mild
Kyphosis/Scoliosis
+/Mild
−
−
−
+
+
−
Hearing loss
+
−
−
−
−
−
−
Arterial dilatation/rupture
−
+/Mild
−
+
+
−/Mild
−
Skin hyperextensibility
−
+
−/Mild
− /Mild
+
+
+
Muscle hypotonia
−
+
−/Mild
−
+
+
−
