Rienhoff syndrome
Findings
No curated finding names Rienhoff syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0014262), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
57 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Aortic root aneurysmHPOHP:0002616
- 1 of 1 reported patient
- Bilateral coxa valgaHPOHP:0010665
- 2 of 2 reported patients
- Blue scleraeHPOHP:0000592
- 1 of 1 reported patient
- BrachycephalyHPOHP:0000248
- 1 of 1 reported patient
- Broad faceHPOHP:0000283
- 1 of 1 reported patient
- Cleft soft palateHPOHP:0000185
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- TGFB3HGNC:11769
- Definitive · G2P · Autosomal dominant · 2023
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Strong · Illumina · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2020
Where it sits
Other names
1 name
Resolves to: Rienhoff syndrome
- Also called
- Loeys-Dietz syndrome type 5