Medical characteristics
Four main characteristics are commonly seen in individuals with Loeys-Dietz syndrome. These feature are not usually seen all together in other connective tissue disorders as major characteristics. These symptoms include:
• twisting or spiraled arteries (arterial tortuosity). This most often occurs in the vessels of the neck.
• Widely spaced eyes (hypertelorism)
• Split (bifid) or broad uvula (the little piece of flesh that hangs down in the back of the mouth) .
• A widening or dilation of arteries (aneurysms) can be observed by imaging techniques. This is most often observed in the aortic root, but can be seen in other arteries throughout the body.
Below is a more complete list of symptoms that have been recorded in patients who have been diagnosed with LDS. 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.
Craniofacial:
•Flat cheek bones (malar hypoplasia)
•Slight downward slant to the eyes
•Early fusion of the skull bones (craniosynostosis)
•Blue tinge to the whites of the eyes (blue sclerae)
•Small and/or receding chin (micrognathia/retrognathia)
•Fluid collection in the brain (hydrocephalus )*
Skeletal:
•Long fingers and toes
•Clubfoot
•S-like curvature of the spine (scoliosis )
•Instability in the vertebrae directly below the skull (cervical-spine instability
•Joint laxity
•Chest wall deformity (pectus excavatum/carinatum)
Skin:
•Translucent and/or velvety skin
•Easy bruising
•Abnormal or wide scarring
•Soft skin texture
•Hernias
Cardiovascular:
Congenital 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.