U.S. flag

An official website of the United States government

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

Cutis laxa, autosomal recessive, type 1A

Synonyms
Autosomal recessive cutis laxa type IA

Summary

Excerpted from the GeneReview: FBLN5-Related Cutis Laxa
FBLN5-related cutis laxa is characterized by cutis laxa, early childhood-onset pulmonary emphysema, peripheral pulmonary artery stenosis, and other evidence of a generalized connective disorder such as inguinal hernias and hollow viscus diverticula (e.g., intestine, bladder). Occasionally, supravalvar aortic stenosis is observed. Intrafamilial variability in age of onset is observed. Cardiorespiratory failure from complications of pulmonary emphysema (respiratory or cardiac insufficiency) is the most common cause of death.
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:
Lionel Van Maldergem
Bart Loeys
view full author information

Available tests

55 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (55 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ADCL2, ARCL1A, ARMD3, CMT1H, DANCE, EVEC, FIBL-5, HNARMD, UP50, FBLN5
    Summary: fibulin 5

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

Show allHide all

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.