Ehlers-Danlos syndrome

Ehlers-Danlos syndrome is a syndrome due to a genetic defect.

Features:

• Hyperextensible skin.
• Hypermobile joints.
• Ruptures of intestinal, large arteries (e.g. aortic dissection), cornea.
• Poor wound healing.

Subtypes

Classification:

• There are six subtypes (classical, hypermobility, vascular, kyphoscoliosis, arthrochalasia, dermatosparaxis) - based molecular defects and clinical features.
• Two of six are autosomal recessive (kyphoscoliosis, dermatosparaxis); the others are autosomal dominant.

Incidence

• 1 in 5000.

See also

• Marfan syndrome.
• Vascular disease.
• Connective tissue disorders.