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GTR Home > Conditions/Phenotypes > Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies

Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies

Synonyms
Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities; Cutis laxa, autosomal recessive, type IC; URBAN-RIFKIN-DAVIS SYNDROME
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Excerpted from the GeneReview: LTBP4-Related Cutis Laxa
LTBP4-related cutis laxa is characterized by cutis laxa, early childhood-onset pulmonary emphysema, peripheral pulmonary artery stenosis, and other evidence of a generalized connective tissue disorder such as inguinal hernias and hollow visceral diverticula (e.g., intestine, bladder). Other manifestations can include pyloric stenosis, diaphragmatic hernia, rectal prolapse, gastrointestinal elongation/tortuosity, cardiovascular abnormality, pulmonary hypertension, hypotonia and frequent pulmonary infections. Bladder diverticula and hydronephrosis are common. Early demise has been associated with pulmonary emphysema.
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:
Bert L Callewaert
Zsolt Urban
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Available tests

38 tests are in the database for this condition.

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Clinical tests (38 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ARCL1C, LTBP-4, LTBP4L, LTBP4S, LTBP4
    Summary: latent transforming growth factor beta binding protein 4

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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