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Loeys-Dietz syndrome 1

Synonyms
Aortic aneurysm syndrome, Loeys-Dietz type; Aortic aneurysm, familial thoracic 5; Furlong syndrome; Loeys-Dietz syndrome type 1A; Loeys-Dietz syndrome type 2A; TGFBR1-Related Loeys-Dietz Syndrome; TGFBR1-Related Thoracic Aortic Aneurysms and Aortic Dissections

Summary

Excerpted from the GeneReview: Loeys-Dietz Syndrome
Loeys-Dietz syndrome (LDS) is characterized by vascular findings (cerebral, thoracic, and abdominal arterial aneurysms and/or dissections), skeletal manifestations (pectus excavatum or pectus carinatum, scoliosis, joint laxity, arachnodactyly, talipes equinovarus, and cervical spine malformation and/or instability), craniofacial features (hypertelorism, strabismus, bifid uvula / cleft palate, and craniosynostosis that can involve any sutures), and cutaneous findings (velvety and translucent skin, easy bruising, and dystrophic scars). Individuals with LDS are predisposed to widespread and aggressive arterial aneurysms and pregnancy-related complications including uterine rupture and death. Individuals with LDS can show a strong predisposition for allergic/inflammatory disease including asthma, eczema, and reactions to food or environmental allergens. There is also an increased incidence of gastrointestinal inflammation including eosinophilic esophagitis and gastritis or inflammatory bowel disease. Wide variation in the distribution and severity of clinical features can be seen in individuals with LDS, even among affected individuals within a family who have the same pathogenic variant.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Bart L Loeys
Harry C Dietz
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Available tests

131 tests are in the database for this condition.

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Clinical tests (131 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: AAT5, ACVRLK4, ALK-5, ALK5, ESS1, LDS1, LDS1A, LDS2A, MSSE, SKR4, TBR-i, TBRI, TGFR-1, tbetaR-I, TGFBR1
    Summary: transforming growth factor beta receptor 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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