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GTR Home > Conditions/Phenotypes > Ehlers-Danlos syndrome due to tenascin-X deficiency

Ehlers-Danlos syndrome due to tenascin-X deficiency

Synonyms
EDS due to TNX deficiency; EHLERS-DANLOS SYNDROME, CLASSIC-LIKE; Ehlers-Danlos syndrome, classic-like, 1; Ehlers-Danlos-like syndrome due to tenascin-X deficiency; TNX deficiency
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

The clinical features of TNXB-related classical-like Ehlers-Danlos syndrome (clEDS) strongly resemble those seen in classic EDS (cEDS). Affected individuals have generalized joint hypermobility, hyperextensible skin, and easy bruising, but do not have atrophic scarring, as is seen in cEDS. There are also several other distinguishing clinical findings including anomalies of feet and hands, edema in the legs in the absence of cardiac failure, mild proximal and distal muscle weakness, and axonal polyneuropathy. Vaginal, uterine, and/or rectal prolapse can also occur. Tissue fragility with resulting rupture of the trachea, esophagus, and small and large bowel has been reported. Vascular fragility causing a major event occurs in a minority of individuals. Significant variability in the severity of musculoskeletal symptoms and their effect on day-to-day function between unrelated affected individuals as well as among affected individuals in the same family has been reported. Fatigue has been reported in more than half of affected individuals. The severity of symptoms in middle-aged individuals can range from joint hypermobility without complications to being wheelchair-bound as a result of severe and painful foot deformities and fatigue. [from GeneReviews]

Available tests

31 tests are in the database for this condition.

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Clinical tests (31 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: EDS3, EDSCLL, EDSCLL1, HXBL, TENX, TN-X, TNX, TNXB1, TNXB2, TNXBS, VUR8, XB, XBS, TNXB
    Summary: tenascin XB

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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