Genes affected: TGFBR1 on 9q33-q34 (25% of cases) and TGFBR2 on 3p22 (75% of cases)
Inheritance: autosomal dominant if inherited (25%) else de novo mutation.
Major findings:
(1) vascular (aortic root dilatation, dissection of the aorta, increased arterial tortuosity, aneurysms in other arteries, mitral valve prolapse, dilation of the proximal pulmonary artery)
(2) skeletal (pectus deformities, scoliosis, joint laxity with hypermobility, arachnodactyly, talipes equinovarus)
(3) craniofacial (ocular hypertelorism, bifid uvula, cleft palate, craniosynostosis)
(4) cutaneous (translucent skin, dystrophic scars, easy bruisability)
Additonal features:
(1) cervical spine instability
(2) recurrent pneumothorax
(3) spontaneous rupture of uterus, spleen or bowel
(4) absence of ectopia lentis
(5) variable eye changes (myopia, amblyopia, retinal detachment, strabismus, blue sclerae)
(6) dural ectasia
