Loeys-Dietz Syndrome
Mutations in the TGFB receptor genes (TGBR1 and TGFBR2) have been found to give rise to clinical phenotypes that overlap with those seen in the Marfan syndrome and Ehlers-Danlos syndrome type IV, including aortic aneurysm named Loeys-Dietz syndrome. The syndrome can also include hypertelorism (wide spaced eyes), generalized arterial tortuosity, craniosynostosis, cleft palate, bifid uvula, congenital heart disease, and mental retardation (Mizuguchi et al. 2004; Loeys et al. 2005; Loeys et al. 2006). This spectrum represents the sum of findings in almost five dozen families and it is important to emphasize that in a given family only a few of these findings may be present. In some families only aortic root enlargement with risk of early dissection has been recognized while in others the phenotype may be more complex.
References:
Loeys BL et al. A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. Nat Genet. 2005 Mar;37(3):275-81.
Loeys BL et al. NEJM Aneurysm Syndromes Caused by Mutations in the TGFbeta Receptor. Volume 355:788-798 August 24, 2006 Number 8.
