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GTR Home > Conditions/Phenotypes > Ehlers-Danlos syndrome, type 3

Ehlers-Danlos syndrome, type 3

Synonyms
BENIGN HYPERMOBILITY SYNDROME; EDS III; EDS3 (formerly); EHLERS-DANLOS SYNDROME, TYPE III; Ehlers-Danlos Syndrome, Hypermobility Type; Ehlers-Danlos syndrome type 3 (formerly); ORPHA:285
Modes of inheritance
Autosomal recessive inheritance (Orphanet)
Autosomal dominant inheritance (Orphanet)

Summary

Hypermobile Ehlers-Danlos syndrome (hEDS) is generally considered the least severe type of EDS, although significant complications, primarily musculoskeletal, can and do occur. The skin is often soft and may be mildly hyperextensible. Subluxations and dislocations are common; they may occur spontaneously or with minimal trauma and can be acutely painful. Degenerative joint disease is common. Chronic pain, distinct from that associated with acute dislocations, is a serious complication of the condition and can be both physically and psychologically disabling. Easy bruising, functional bowel disorders, and cardiovascular autonomic dysfunction are common. Aortic root dilation, when present, is typically of a mild degree with no increased risk of dissection in the absence of significant dilation. Psychological dysfunction, psychosocial impairment, and emotional problems are common. [from GeneReviews]

Available tests

23 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (23 available)

Molecular Genetics Tests

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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