About Loeys-Dietz Syndrome

Main Characteristics

Four main characteristics suggest the diagnosis of LDS. These features are not usually seen all together in other connective tissue disorders as major characteristics. These symptoms include:

  • Arterial tortuosity (twisting or spiraled arteries), most often occurring in the vessels of the neck and observed on imaging techniques
  • Hypertelorism (widely spaced eyes)
  • Bifid (split) or broad uvula (the little piece of flesh that hangs down in the back of the mouth)
  • Aneurysms (widening or dilation of arteries), which can be observed by imaging techniques. These are most often observed in the aortic root (base of the artery leading from the heart) but can be seen in other arteries throughout the body

It is important to note, however, that these findings are not observed in all patients and do not concretely lead to a diagnosis of LDS.

Categorized by system, below is a more detailed list of symptoms recorded in individuals diagnosed with Loeys-Dietz syndrome:

Craniofacial (head and face)

  • Malar hypoplasia (flat cheek bones)
  • Slight downward slant to the eyes
  • Craniosynostosis (early fusion of the skull bones)
  • Cleft palate (hole in the roof of the mouth)
  • Blue sclerae (blue tinge to the whites of the eyes)
  • Micrognathia (small chin) and/or retrognathia (receding chin)

Skeletal (bones)

  • Long fingers and toes
  • Contractures of the fingers
  • Clubfoot or skewfoot deformity
  • Scoliosis (s-like curvature of the spine)
  • Cervical-spine instability (instability in the vertebrae directly below the skull)
  • Joint laxity
  • Pectis excavatum (chest wall deformity that causes the sternum and breast bone to grow inward) / Pectus carinatum (chest wall deformity that pushes the sternum and breast bone out)
  • Osteoarthritis
  • Typically normal stature

Skin

  • Translucent skin
  • Soft or velvety skin
  • Easy bruising
  • Abnormal or wide scarring
  • Soft skin texture
  • Hernias

Cardiac

  • Congenital (existing at birth) heart defects, which can include patent ductus arteriosus (PDA), atrial or ventricular septal defect (ASD/VSD) and bicuspid aortic valve (BAV)

Other

  • Food or environmental allergies
  • Gastrointestinal inflammatory disease
  • Hollow organs such as intestine, uterus and spleen prone to rupture

Medical information provisioned by The Loeys-Dietz Syndrome Foundation. © 2015

Last Updated January 19, 2015