Loeys-Dietz Syndrome Type I shows a number of phenotypic features which can help to identify affected patients.
Genetic defect: mutations in transforming growth factor (TGF)-beta receptor 1 (TGFBR1)
Inheritance: autosomal dominant or de novo mutation
Classic triad:
(1) cleft palate (including bifid uvula)
(2) ocular hypertelorism
(3) arterial tortuosity with aneurysms at the aortic root or of other arteries, aortic dilatation and/or aortic dissection
General findings:
(1) developmental delay
(2) velvety and/or translucent skin
(3) easy bruising
(4) dystrophic scars
Craniofacial findings:
(1) malar hypoplasia
(2) retrognathia
(3) craniosynostosis
Ocular findings:
(1) blue sclerae
(2) ectopia lentis
Cardiovascular findings:
(1) patient ductus arteriosus (PDA)
(2) atrial septal defect (ASD)
Skeletal findings:
(1) dolichostenomelia
(2) arachnodactyly
(3) instability of the cervical spine
(4) scoliosis
(5) pectus deformity
(6) talipes equinovarus
(7) camptodactyly
(8) joint laxity
