Loeys-Dietz Syndrome
Synonyms
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.