Loeys-Dietz Syndrome: Symptoms & Signs

Medically Reviewed on 4/5/2022

Loeys-Dietz syndrome is a genetic condition that affects the connective tissue of the body. Five types of the condition have been described.

Signs and symptoms vary in severity among those affected, and symptoms may appear any time form childhood through adulthood. Symptoms and signs can include

  • widening of the aorta (aortic aneurysms),
  • skeletal abnormalities,
  • premature fusion of the skull bones (craniosynostosis),
  • an abnormal side-to-side curvature of the spine (scoliosis),
  • sunken or protruding chest, and
  • clubfoot.

Other associated signs and symptoms can include

  • flat feet,
  • elongated limbs with joint deformities called contractures that restrict the movement of certain joints,
  • disc degeneration,
  • osteoarthritis in the knees and the joints of the hands, wrists, and spine,
  • easy bruising,
  • abnormal scarring,
  • translucent skin,
  • stretch marks,
  • widely spaced eyes (hypertelorism),
  • a split in the soft flap of tissue that hangs from the back of the mouth (bifid uvula), or
  • cleft palate.

Cause of Loeys-Dietz Syndrome

It is caused by a mutation in one of five genes: TGFBR1, TGFBR2, SMAD3, TGFB2, or TGFB3. About 75% of cases arise due to a new mutation in one of these genes; the remaining cases are due to inheritance of a defective gene from either parent (autosomal dominant inheritance).

Other loeys-dietz syndrome symptoms and signs

  • Abnormal Scarring
  • Abnormal Side-to-Side Curvature of the Spine (Scoliosis)
  • Cleft Palate
  • Clubfoot
  • Disc Degeneration
  • Easy Bruising
  • Elongated Limbs with Joint Deformities Called Contractures That Restrict the Movement of Certain Joints
  • Flat Feet
  • Osteoarthritis in the Knees and the Joints of the Hands, Wrists, and Spine
  • Premature Fusion of the Skull Bones (Craniosynostosis)
  • Skeletal Abnormalities
  • Split in the Soft Flap of Tissue That Hangs from the Back of the Mouth (Bifid Uvula)
  • Stretch Marks
  • Sunken or Protruding Chest
  • Translucent Skin
  • Widely Spaced Eyes (Hypertelorism)
  • Widening of the Aorta (Aortic Aneurysms)

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References
Jameson, J. Larry, et al. Harrison's Principles of Internal Medicine, 20th Ed. New York: McGraw-Hill Education, 2018.