Loeys-Dietz syndrome (LDS), type 1A / type 1B (LDS1A / LDS1B)

Loeys-Dietz syndrome

Loeys-Dietz syndrome (LDS) is a recently described syndrome caused by mutations in one of two genes, TGFBR1 (LDS1A; MIM 609192) or TGFBR2 (LDS1B; MIM 610168). The reported phenotype is highly variable and overlaps considerably with Ehlers-Danlos syndrome IV (EDS IV; MIM 130050) or Marfan syndrome (MFS; MIM 154700). A high percentage of patients have aortic root aneurysm or other arterial aneurysms. Some have cardiac abnormalities including patent ductus or atrial septal defects. Many display arterial tortuosity. Skeletal defects may include hypertelorism, pectus defects, joint laxity, craniosynostosis, arachnodactyly, scoliosis, talipes equinovarus, camptodactyly and malar hypoplasia. Some have dural ectasia. Additional features may include uterine, spleen or bowel rupture, thin, translucent, hyperextensible or velvety skin with atrophic scars and easy bruising. Blue sclera and a bifid uvula have also been observed.