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GTR Home > Conditions/Phenotypes > Cutis laxa, autosomal recessive, type 1B

Cutis laxa, autosomal recessive, type 1B

Synonyms
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB

Summary

EFEMP2-related cutis laxa, or autosomal recessive cutis laxa type 1B (ARCL1B), is characterized by cutis laxa and systemic involvement, most commonly arterial tortuosity, aneurysms, and stenosis; retrognathia; joint laxity; and arachnodactyly. Severity ranges from perinatal lethality as a result of cardiopulmonary failure to manifestations limited to the vascular and craniofacial systems. [from GeneReviews]

Available tests

74 tests are in the database for this condition.

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Clinical tests (74 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ARCL1B, FBLN4, MBP1, UPH1, EFEMP2
    Summary: EGF containing fibulin extracellular matrix protein 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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