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At a glance

Heterogeneous group of inherited connective tissue disorders characterized by joint hyperlaxity, skin hyperextensibility, and tissue fragility (13 major Types—see Table E-1).

Synonyms

Ehlers-Danlos Disease; Chernogubov Syndrome; Cutis Elastica; Danlos Syndrome; Meekeren-Ehlers-Danlos Syndrome; Van Meekeren Syndrome I; Sack Syndrome; Sack-Barabas Syndrome; Indian Rubber Man.

Classification

The 2017 international classification of the Ehlers-Danlos Syndromes established 13 sub-divisions, often called variants of the Ehlers-Danlos Syndrome, which are listed below and defined in Table E-1. They consist of:

  • Classic Type EDS (formerly EDSI and EDSII): Characterized by skin hyperextensibility, joint laxity, and fragile blood vessels.

  • Classical-like Type EDS: Similar to the clinical presentation described for the Classic Type EDS; however, the genetic causes of cEDS and clEDS differ.

  • Cardiac-Valvular Type EDS: Characterized by minor signs of EDS but major defects of the aorta. It is a rare variant of EDS and surgery is necessary to fix the anomaly.

  • Vascular Type EDS: Characterized by a combination of birth defects, such as clubfoot deformities and dislocation of the hips. In childhood, inguinal hernia and spontaneous pneumothorax are indicative of this condition. The major clinical features include sudden arterial wall dissection causing aneurysms and potentially life-threatening ruptures. Arteriovenous malformations are seen and the carotid-cavernous sinus fistula represents the most severe anomaly. Acute abdominal pain may suggest arterial or intestinal rupture. Pregnancies are usually considered high-risk due to potential uterine rupture. The established median life expectancy is 50 years, however, with careful surveillance and clinical management of complications, affected individuals may live well longer.

  • Hypermobility Type EDS: Usually musculoskeletal in nature. Frequent joint dislocation and degenerative joint disease are common and associated with a baseline chronic pain, which affects both physical and psychological wellbeing. The risk associated with vascular dissections is minimal.

  • Arthrochalasia Type EDS: Associated with multiple joint dislocations affecting mobility significantly early in life and leading to severe physical disability with older age. The presence of significant muscular hypotonia and bilateral dislocation of the hips at birth might be difficult to distinguish from kEDS.

  • Dermatosparaxis Type EDS: Characterized by common body features that include short stature and finger length, very loose facial skin, blue-tinged sclerae, and micrognathia. Individuals affected are prone to diaphragmatic ruptures and spontaneous ventilation problems.

  • Kyphoscoliotic Type EDS: Characterized by scleral rupture, microcornea, myopia, glaucoma, and sudden retinal detachment. Newborns present severe muscular hypotonia and in childhood scoliosis. The most severely affected adults become wheelchair bound as early as the third decade.

  • Brittle Cornea Syndrome: Characterized by keratoconus, keratoglobus (protrusion of the globe) and sudden scleral perforation. Blue sclera is often associated.

  • Spondylodysplastic Type EDS: Variant of the EDS that causes skeletal dysmorphology, involving primarily the spine and the hands. The clinical features include short stature, protuberant eyes with bluish sclera, wrinkled skin of the palms, thenar muscles atrophy, and tapering fingers.

  • Musculocontractural Type EDS: Characterized by progressive multisystem complications caused by severe developmental delay ...

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