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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
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Available tests

59 tests are in the database for this condition.

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Clinical tests (59 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

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Imported from Human Phenotype Ontology (HPO)

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