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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

Excerpted from the GeneReview: EFEMP2-Related Cutis Laxa
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.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Bart Loeys
Anne De Paepe
Zsolt Urban
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Available tests

75 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (75 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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