Loeys-Dietz Syndrome


Loeys Dietz Aortic Aneurysm Syndrome

Loeys Dietz Syndrome

Loeys Dietz Syndrome, Type 1a

Loeys-Dietz Aortic Aneurysm Syndrome

Loeys-Dietz Syndrome, Type 1a

Syndrome, Loeys-Dietz

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.