Loeys-Dietz syndrome

Orpha code: 60030OMIM code: 610168

Definition

Loeys-Dietz syndrome is a rare genetic connective tissue disorder characterized by a broad spectrum of craniofacial, vascular and skeletal manifestations with four genetic subtypes described forming a clinical continuum.

Disease data
Classification

Malformation syndrome

Synonyms
Aortic aneurysm syndrome due to TGF-beta receptors anomalies
Zespół tętniaka aorty spowodowany anomaliami receptorów TGF-beta
ORPHA code
60030
OMIM code
610168
ICD10 code
Q87.4
ICD11 code
-

No additional description.

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