Syndrome

Loeys-Dietz Syndrome

AMW:DIS:050314

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.

Pathology clinical

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Loeys-Dietz Syndrome has parent Abnormalities, Multiple

Loeys-Dietz Syndrome has parent Aortic Aneurysm

Loeys-Dietz Syndrome has parent Craniofacial Abnormalities

Loeys-Dietz Syndrome has parent Genetic Diseases, Inborn

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