Main Medical 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:

  • 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
  • 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)

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
  • Pectus 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)

 

Ocular

  • Myopia (nearsighted)
  • Eye muscle disorders
  • Retinal detachment: The retina is the light-sensitive layer of tissue that lines the inside of the eye and sends visual messages through the optic nerve to the brain. When the retina detaches, it is lifted or pulled from its normal position. If not promptly treated, retinal detachment can cause permanent vision loss.

 

Other

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


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