How is Rienhoff syndrome inherited?

Rienhoff syndrome follows an autosomal dominant inheritance pattern. This means inheriting just one copy of the altered gene from either parent can cause the condition.

How is Rienhoff syndrome diagnosed?

Information about diagnosis is currently limited for this condition.

Are there treatments for Rienhoff syndrome?

Information about treatment is currently limited for this condition.

What complications can arise from Rienhoff syndrome?

Rienhoff syndrome can lead to serious complications, particularly due to aortic aneurysms. These bulges in the large blood vessels can cause dissection or rupture, which can be life-threatening. Additionally, issues with the heart, such as problems with the mitral valve, can also arise, affecting overall heart health.

How does Rienhoff syndrome affect daily life?

Living with Rienhoff syndrome can involve managing various symptoms and health issues. For instance, individuals may need regular check-ups to monitor their heart and blood vessels, especially for aortic aneurysms. Other features, like a cleft palate or clubfoot, may require additional medical attention or therapies to support daily activities.

What is the life expectancy for someone with Rienhoff syndrome?

Currently, there is limited information about the life expectancy of individuals with Rienhoff syndrome. The condition can lead to serious health issues, particularly related to the heart and blood vessels, which may impact lifespan. Ongoing medical care and monitoring are crucial for managing the risks associated with this syndrome.

Are there specific specialists that should be involved in the care of someone with Rienhoff syndrome?

Yes, individuals with Rienhoff syndrome may benefit from seeing a team of specialists. A cardiologist is important for monitoring heart health, especially for aortic aneurysms. Additionally, other specialists, such as a geneticist or orthopedic doctor, may be involved to address the various features of the syndrome, like skeletal growth or cleft palate.

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Rienhoff syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

Rienhoff syndrome

MONDO:0014262

Also known as:Loeys-Dietz syndrome type 5LDS5Loeys-Dietz syndrome 5

Overview

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.

GeneticsAutosomal dominant · TGFB3 (chr 14)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Tented upper lip vermilion, Failure to thrive in infancy, Nevus flammeus, and Decreased muscle mass and others; and common findings: Hypertelorism, Pes planus, and Arachnodactyly. 57 total HPO annotations.

Organ System	Phenotype Count	Example Features
Head and neck	6	Tented upper lip vermilion, Broad face, Cleft palate

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

TGFB3 function has not been fully characterized.

Rienhoff syndrome is associated with mutations in the TGFB3 gene on chromosome 14.

GeneReviews

Penetrance

Rare examples of non-penetrance in LDS have been documented. In some instances, non-penetrance is explained by mosaicism .

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

GeneReviews

Diagnostic Criteria

No consensus clinical diagnostic criteria for Loeys-Dietz syndrome (LDS) have been published.

Suggestive Findings

LDS should be suspected in individuals with the following vascular, skeletal, craniofacial, cutaneous, allergic/inflammatory, ocular, and family history findings .

Vascular

Dilatation or dissection of the aorta and other arteries. Aortic root dilatation is seen in more than 95% of probands; the aortic root is the most common site for a dissection to occur. In rare circumstances, aneurysms or dissections can be seen in other arteries in the head, chest, abdomen, or extremities in the absence of aortic involvement.

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for Rienhoff syndrome. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

An extensive review of management guidelines for Loeys-Dietz syndrome (LDS) has been published (full text). Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with LDS, the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended. Table 6. Loeys-Dietz Syndrome: Recommended Evaluations Following Initial Diagnosis

Prognosis

Based on GeneReviews surveillance recommendations, HPO phenotype frequency and severity annotations, and published prevalence estimates from Orphanet and OMIM.

GeneReviews

Surveillance Guidelines

To monitor existing manifestations, the individual's response to supportive care, and the emergence of new manifestations, the evaluations summarized in are recommended. Table 8. Loeys-Dietz Syndrome: Recommended Surveillance

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for Rienhoff syndrome.

18 publications have been identified in PubMed for Rienhoff syndrome. Research spans Case Report / Case Series (33%), Epidemiology / Natural History (28%), and Basic Science / Preclinical (17%).

Research Type	Count	% of Total
Patient case studies	6	33%

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 1:55 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:615582

GARD

Genetic and Rare Diseases Info Center

GARD:12356

Questions for Your Care Team

→Should I pursue genetic testing for TGFB3, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

FAQ

Frequently Asked Questions

Common questions about 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. Associated genes include TGFB3.

← Back to All Diseases

System/Concern	Evaluation	Comment
Craniofacial	Craniofacial exam for evidence of cleft palate craniosynostosis	—
Allergy/ Gastrointestinal disease	Assessment for clinical manifestations of asthma, food allergy, eczema, allergic rhinitis, /or eosinophilic gastrointestinal disease	Ocular
Genetic counseling	By genetics professionals2	To obtain a pedigree inform affected persons their families re nature, MOI, implications of LDS to facilitate medical personal decision making LDS = Loeys-Dietz syndrome; MOI = mode of inheritance; MRA = magnetic resonance angiography 1.
Loeys-Dietz Syndrome: Treatment of Manifestations Manifestation/Concern	Treatment	Considerations/Other
Cardiovascular	Persons should be managed in a medical center familiar w/LDS.	Beta-adrenergic blockers or angiotensin receptor blockers (ARBs) to hemodynamic stress

Kisho

Rienhoff syndrome

Overview

Clinical Presentation

Genetic Landscape

Penetrance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

FAQ

Frequently Asked Questions

Clinical Guidance

Cardiovascular

Explore clinical features

Differential Diagnosis

Marfan Syndrome and Shprintzen-Goldberg Syndrome

Clinical Guidance

Clinical Trials

Recent Publications

Rienhoff syndrome

Overview

Clinical Presentation

Genetic Landscape

Penetrance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

FAQ

Frequently Asked Questions

What is Rienhoff syndrome?

What are the symptoms of Rienhoff syndrome?

What causes Rienhoff syndrome?

How is Rienhoff syndrome inherited?

How is Rienhoff syndrome diagnosed?

Are there treatments for Rienhoff syndrome?

What complications can arise from Rienhoff syndrome?

How does Rienhoff syndrome affect daily life?

What is the life expectancy for someone with Rienhoff syndrome?

Are there specific specialists that should be involved in the care of someone with Rienhoff syndrome?

Clinical Guidance

Cardiovascular

Explore clinical features

Differential Diagnosis

Marfan Syndrome and Shprintzen-Goldberg Syndrome

Clinical Guidance

Clinical Trials

Recent Publications