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Main Medical Characteristics

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.

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Craniofacial (head and face)

  • Malar hypoplasia (flat cheek bones)
  • Slight downward slant to the eyes
  • Craniosynostosis (early fusion of the skull bones)
  • Blue sclerae (blue tinge to the whites of the eyes)
  • Micrognathia (small chin) and/or retrognathia (receding chin)
  • Hydrocephalus (fluid collection in the brain)*

*denotes findings that are rarely found in individuals with LDS.

 

Skeletal (bones)

  • Long fingers and toes
  • Clubfoot
  • 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 cause the sternum and breast bone to grow inward) / Pectuas carinatum (chest wall deformity that pushes the sternum and breast bone out)

 

Skin

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

 

Cardiovascular (heart and arteries)

  • 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

  • Learning disability*
  • Allergies and gastrointestinal problems (still being defined)
  • Hollow organs such as intestine, uterus and spleen prone to rupture

*denotes findings that are rarely found in individuals with LDS.

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