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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• 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.

• 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)

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

• 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)

• 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.