Loeys-Dietz Syndrome (definition)

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Loeys-Dietz Syndrome

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Definition: An autosomal dominant aneurysm with multisystem abnormalities caused by increased TGF-BETA signaling due to mutations in type I or II of TGF-BETA RECEPTOR. Additional craniofacial features include CLEFT PALATE; CRANIOSYNOSTOSIS; HYPERTELORISM; or bifid uvula. Phenotypes closely resemble MARFAN SYNDROME; Marfanoid craniosynostosis syndrome (Shprintzen-Goldberg syndrome); and EHLERS-DANLOS SYNDROME.

See Also Ehlers-Danlos Syndrome; Marfan Syndrome

Other names Syndrome, Loeys-Dietz; Loeys Dietz Syndrome; Loeys Dietz Aortic Aneurysm Syndrome; Loeys-Dietz Aortic Aneurysm Syndrome

Substance	CAS Registry & name	Categories	Source
Ascending aortic aneurysm, hypertelorism, bifid uvula, cleft palate, and arterial tortuosity	0	*Loeys-Dietz Syndrome.

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Sources: NLM Medical Subject Headings, NIH UMLS, Drugs@FDA, FDA AERS original data copyright United States Government. No endorsement implied. Last modified 6/6/2012
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