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


To read more or access our algorithms and calculators, please log in or register.