Rienhoff syndrome
Loeys-Dietz syndrome-5 (LDS5), also known as Rienhoff (pronounced REENhoff) syndrome, is characterized by syndromic presentation of aortic aneurysms involving the thoracic and/or abdominal aorta, with risk of dissection and rupture. Other systemic features include cleft palate, bifid uvula, mitral valve disease, skeletal overgrowth, cervical spine instability, and clubfoot deformity; however, not all clinical features occur in all patients. In contrast to other forms of LDS, no striking aortic or arterial tortuosity is present in these patients, and there is no strong evidence for early aortic dissection.
MONDO:0005172
skeletal system disorder
is_a
MONDO:0018954
Loeys-Dietz syndrome
is_a
LDS5
related
Loeys-Dietz syndrome 5
related
Loeys-Dietz syndrome type 5
exact
Rienhoff syndrome
exact