has material basis in germline mutation in TGFB3 skeletal system disorder Rienhoff syndrome https://github.com/monarch-initiative/mondo/issues/4948 https://github.com/monarch-initiative/mondo/issues/6751 https://rarediseases.info.nih.gov/diseases/12356/rienhoff-syndrome https://www.malacards.org/card/loeys_dietz_syndrome_5 EFO:1000012 UMLS:C3810012 LDS5 Loeys-Dietz syndrome type 5 MONDO:0014262 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. MEDGEN:816342 Loeys-Dietz syndrome 5 DOID:0070236 GARD:0012356 Rienhoff syndrome OMIM:615582 Loeys-Dietz syndrome