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GTR Home > Conditions/Phenotypes > Cutis laxa, X-linked

Cutis laxa, X-linked

Synonyms
EDS IX; EDS IX (formerly); Ehlers-Danlos syndrome, occipital horn type (formerly); Occipital horn syndrome
Modes of inheritance
X-linked recessive inheritance (Orphanet)

Summary

Occipital horn syndrome (OHS) is a rare connective tissue disorder characterized by hyperelastic and bruisable skin, hernias, bladder diverticula, hyperextensible joints, varicosities, and multiple skeletal abnormalities. The disorder is sometimes accompanied by mild neurologic impairment, and bony abnormalities of the occiput are a common feature, giving rise to the name (summary by Das et al., 1995). [from OMIM]

Available tests

80 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (80 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: DSMAX, HMNX, MK, MNK, SMAX3, ATP7A
    Summary: ATPase copper transporting alpha

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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