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.



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