Rienhoff syndrome

Rienhoff syndrome, also known as Loeys-Dietz syndrome type 5 or LDS5, is a rare condition that affects the body's connective tissue. This syndrome is mainly known for causing aortic aneurysms in the chest and/or abdomen, which can potentially lead to dissection or rupture. People with this condition may have other features affecting multiple body systems. These features include a cleft palate, a split or bifid uvula, problems with the mitral valve in the heart, skeletal overgrowth, instability in the neck (cervical spine), and clubfoot. However, not every person with Rienhoff syndrome will experience all of these signs, and the condition does not usually show the extreme twisting of blood vessels seen in other types of Loeys-Dietz syndrome.

People with Rienhoff syndrome commonly develop aortic aneurysms, which are bulges in the large blood vessel that may threaten heart health. Other signs can include issues such as a cleft palate or bifid uvula, heart valve problems (especially with the mitral valve), unusually fast or excessive growth of bones, instability in the cervical spine, and clubfoot deformity. Not every person shows all these features.

Rienhoff syndrome is linked to changes in the TGFB3 gene. This genetic mutation likely contributes to the abnormalities seen in the connective tissue, leading to the various features of the disorder. The exact mechanisms by which the gene affects different body parts are still being studied.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about current research and future directions is limited for this condition. Researchers continue to study genetic factors and the wide range of symptoms to better understand Rienhoff syndrome.