Loeys-Dietz syndrome

Loeys-Dietz syndrome (LDS) is a genetic disorder that affects the connective tissue in the body. Individuals with LDS exhibit a variety of medical features in the cardiovascular, musculoskeletal, skin and gastrointestinal systems. Although it is an inherited disease, it cannot be tested the same way as other genetic cardiovascular diseases because no two individuals will show the same identical medical characteristics. Information about the natural history and management of individuals with LDS continues to evolve.LDS is a relatively new discovery and so research is fervently continuing to understand this disease at the John Hopkins University (see LDS page here).

Symptoms

The main clinical characteristics include:

  • Widely spaced eyes
  • Cleft palate or bifid uvula
  • Aortic and arterial aneurysms/dissections with corkscrew structure of the arteries

Other findings can include:

  • Scoliosis or Kyphosis
  • Indented or protruding chest wall
  • Contractures of fingers and toes
  • Long fingers and lax joints
  • Club foot
  • Premature fusion of the skull bones
  • Joint hypermobility
  • Congenital heart problems including patent ductus arteriosus
  • Atrial septal defect
  • Translucency of the skin with velvety texture
  • Abnormal junction of the brain and medulla
  • Bicuspid aortic valves

Many of the physical findings typical in LDS are also found in Marfan Syndrome cases. However, LDS also has some additional traits not typical of Marfan patients including widely spaced eyes, a split uvula in the back of the throat, and skin findings such as easy bruising or abnormal scars.

Sources

http://www.loeysdietz.org/en/

http://ghr.nlm.nih.gov/condition/loeys-dietz-syndrome

http://en.wikipedia.org/wiki/Loeys%E2%80%93Dietz_syndrome