How rare is Rothmund-Thomson syndrome?

Rothmund-Thomson syndrome is classified as very rare. The estimated prevalence is approximately <1 in 1,000,000. Because rare disease data can be limited, actual numbers may differ from published estimates.

How is Rothmund-Thomson syndrome diagnosed?

Information about diagnosis is currently limited for this condition.

Are there treatments for Rothmund-Thomson syndrome?

Information about treatment options and management approaches is currently limited for this condition.

Where can I find support for Rothmund-Thomson syndrome?

Patient advocacy organizations for Rothmund-Thomson syndrome include Rothmund-Thomson Syndrome (RTS) Foundation. These organizations can provide information, connect you with other families, and help navigate care. Visit the Support section of this page for full details and contact information.

What complications can arise from Rothmund-Thomson syndrome?

People with Rothmund-Thomson syndrome may face several complications. There is an increased risk of certain cancers, which means regular check-ups and monitoring are important. Additionally, skeletal abnormalities and growth delays can affect daily life and physical development.

How does Rothmund-Thomson syndrome affect daily life?

Living with Rothmund-Thomson syndrome can present challenges due to its symptoms. The characteristic facial rash and sparse hair may affect self-esteem and social interactions. Growth delays and skeletal issues might also impact physical activities and overall mobility.

What is the life expectancy for someone with Rothmund-Thomson syndrome?

Information about life expectancy for individuals with Rothmund-Thomson syndrome is limited. However, the increased risk of certain cancers suggests that ongoing medical monitoring is essential. With appropriate care and management, many individuals can lead fulfilling lives.

Are there any specific specialists recommended for managing Rothmund-Thomson syndrome?

While specific recommendations are not detailed, individuals with Rothmund-Thomson syndrome may benefit from seeing specialists like dermatologists for skin issues and ophthalmologists for eye problems. Regular check-ups with healthcare providers can help manage the various symptoms associated with this condition.

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Rothmund-Thomson syndrome (RTS) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

Rothmund-Thomson syndrome

MONDO:0010002

Also known as:RTScongenital poikilodermapoikiloderma of Rothmund-Thomson

Find Clinical TrialsTrials

Overview

Rothmund-Thomson syndrome (RTS) is a genodermatosis presenting with a characteristic facial rash (poikiloderma) associated with short stature due to pre- and postnatal growth delay, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, juvenile cataracts, skeletal abnormalities, radial ray defects, premature aging and a predisposition to certain cancers.

OnsetJUVENILE, CONGENITAL, ADULT, CHILDHOOD

Clinical Trials1 registered · 1 recruiting

Patient Orgs1 organizations · Rothmund-Thomson Syndrome (RTS) Foundation

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.

No HPO annotations are available for this condition.

Age of onset: adolescence, at birth, adulthood, childhood.

GeneReviews

Clinical Guidance

Rothmund-Thomson syndrome (RTS) is a genetic disorder associated with a characteristic skin rash in combination with certain other findings detailed in this section. One subset of affected individuals defined by the lack of RECQL4 pathogenic variants (historically referred to as type 1 RTS) is predisposed to developing juvenile cataracts but not osteosarcoma when followed over time. The other, larger subset of individuals with RTS and RECQL4 pathogenic variants (historically referred to as type 2 RTS) is at increased risk of developing osteosarcoma and other cancers, and these individuals are also more likely to have skeletal abnormalities .

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

Suggestive Findings

Rothmund-Thomson syndrome (RTS) should be suspected in individuals with the classic rash of RTS.

Acute phase

Starts in infancy, usually between ages three and six months
Erythema on the cheeks and face
Spreads to involve the extensor surfaces of the extremities

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 Rothmund-Thomson syndrome. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with Rothmund-Thomson syndrome (RTS), the evaluations (if not performed as part of the evaluation that led to the diagnosis) are recommended. Table 3. Recommended Evaluations Following Initial Diagnosis in Individuals with Rothmund-Thomson Syndrome (RTS)

Prognosis

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

GeneReviews

Surveillance Guidelines

Table 5. Recommended Surveillance for Individuals with Rothmund-Thomson Syndrome (RTS)

System/Concern

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.

1 clinical trial registered, 1 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

25 publications have been identified in PubMed for Rothmund-Thomson syndrome. Research spans Case Report / Case Series (48%), Review / Meta-Analysis (28%), and Basic Science / Preclinical (24%).

Research Type	Count	% of Total
Patient case studies	12	48%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 3:01 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Patient Support

Patient Advocacy Groups

View all PAGs →

Rothmund-Thomson Syndrome (RTS) FoundationPrimary Focus

USWebsite ↗

Patient Advocacy Groups (PAGs) provide support, resources, and community for patients and caregivers.

Are you a patient organization not listed here? Claim this page to be listed and embed this content on your site — free.

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:2909

GARD

Genetic and Rare Diseases Info Center

GARD:4392

Questions for Your Care Team

→Are any of the 1 active clinical trial a good fit for my situation?
→Are there specialists or centers of excellence for this condition in my area?
→How can I connect with Rothmund-Thomson Syndrome (RTS) Foundation and other patient organizations for support?

FAQ

Frequently Asked Questions

Common questions about Rothmund-Thomson syndrome

Rothmund-Thomson syndrome (RTS) is a genetic disorder that affects the skin and other parts of the body. People with this condition commonly have a distinctive facial rash known as poikiloderma. In addition, there may be other features such as sparse scalp hair, missing or sparse eyelashes and eyebrows, and juvenile cataracts. Along with these skin and eye findings, growth delays before and after birth may lead to short stature. Skeletal abnormalities, including issues with the arms (radial ray defects), and signs of premature aging are also seen in people with RTS. There is an increased risk of certain cancers, and these features characterize the overall presentation of the syndrome.

Common symptoms include a characteristic facial rash (poikiloderma), short stature due to growth delays, and sparse scalp hair along with sparse or absent eyelashes and eyebrows. Other signs can include juvenile cataracts, skeletal abnormalities, and radial ray defects. Some individuals experience features of premature aging.

Rothmund-Thomson syndrome is described as a genodermatosis, which means it is a genetic disorder affecting the skin and other parts of the body. Specific genetic details or risk factors are not provided in the available information. Associated genes include ANAPC1, RECQL4, DNA2, CRIPT.

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Kisho

Rothmund-Thomson syndrome

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Research Landscape

Patient Support

Patient Advocacy Groups

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

FAQ

Frequently Asked Questions

Differential Diagnosis

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Recent Publications

Rothmund-Thomson syndrome

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Research Landscape

Patient Support

Patient Advocacy Groups

Medical References

External Resources

Orphanet

GARD

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

FAQ

Frequently Asked Questions

What is Rothmund-Thomson syndrome?

What are the symptoms of Rothmund-Thomson syndrome?

What causes Rothmund-Thomson syndrome?

How rare is Rothmund-Thomson syndrome?

How is Rothmund-Thomson syndrome diagnosed?

Are there treatments for Rothmund-Thomson syndrome?

Where can I find support for Rothmund-Thomson syndrome?

What complications can arise from Rothmund-Thomson syndrome?

How does Rothmund-Thomson syndrome affect daily life?

What is the life expectancy for someone with Rothmund-Thomson syndrome?

Are there any specific specialists recommended for managing Rothmund-Thomson syndrome?

Differential Diagnosis

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Recent Publications