Rothmund-Thomson syndrome

Title

Other Names:

Poikiloderma of Rothmund-Thomson; Poikiloderma atrophicans and cataract; Poikiloderma Congenitale; Poikiloderma of Rothmund-Thomson; Poikiloderma atrophicans and cataract; Poikiloderma Congenitale; RTS See More

Categories:

Congenital and Genetic Diseases

Summary Summary

Rothmund-Thomson syndrome is a rare condition that affects many parts of the body, especially the skin, eyes, bones, and teeth. Signs and symptoms can include a characteristic facial rash (poikiloderma); sparse hair, eyelashes, and/or eyebrows; short stature; skeletal (bone) and dental abnormalities; cataracts; premature aging; and an increased risk for cancer, especially osteosarcoma.^[1]^[2] Gastrointestinal problems or blood disorders may also occur.^[1] It is inherited in an autosomal recessive manner and most often caused by changes (mutations) in the RECQL4 gene. In some cases, the genetic cause is unknown.^[3] Treatment focuses on the specific signs and symptoms present and may include laser treatment for skin abnormalities; surgery for cataracts; and standard treatment for cancer.^[1]

Last updated: 3/10/2016

Symptoms Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms	Other Names	Learn More: HPO ID
80%-99% of people have these symptoms
Malar rash		0025300
Poikiloderma		0001029
30%-79% of people have these symptoms
Abnormal blistering of the skin	Blistering, generalized Blisters [ more ]	0008066
Infertility		0000789
Nail dystrophy	Poor nail formation	0008404
Palmar hyperkeratosis		0010765
Plantar hyperkeratosis		0007556
Reticular hyperpigmentation		0007588
Short stature	Decreased body height Small stature [ more ]	0004322
Small for gestational age	Birth weight less than 10th percentile Low birth weight [ more ]	0001518
Sparse eyebrow	Sparse eyebrows	0045075
Sparse eyelashes	Scant eyelashes Scanty eyelashes Thin eyelashes [ more ]	0000653
5%-29% of people have these symptoms
Abnormal trabecular bone morphology		0100671
Abnormality of dental enamel	Abnormal tooth enamel Enamel abnormalities Enamel abnormality [ more ]	0000682
Aplasia/Hypoplasia of the patella	Absent/small kneecap Absent/underdeveloped kneecap [ more ]	0006498
Aplasia/Hypoplasia of the radius		0006501
Aplasia/Hypoplasia of the skin	Absent/small skin Absent/underdeveloped skin [ more ]	0008065
Broad ulna		0003993
Carious teeth	Dental cavities Tooth cavities Tooth decay [ more ]	0000670
Delayed eruption of teeth	Delayed teeth eruption Delayed eruption Late tooth eruption Late eruption of teeth Eruption, delayed Delayed tooth eruption [ more ]	0000684
Diarrhea	Watery stool	0002014
Facial edema	Facial puffiness Facial swelling [ more ]	0000282
Hypopigmentation of the skin	Patchy lightened skin	0001010
Hypoplasia of teeth		0000685
Hypoplasia of the ulna	Underdeveloped inner large forearm bone	0003022
Increased number of teeth	Extra teeth Increased tooth count Supplemental teeth [ more ]	0011069
Increased susceptibility to fractures	Abnormal susceptibility to fractures Bone fragility Frequent broken bones Increased bone fragility Increased tendency to fractures [ more ]	0002659
Juvenile cataract		0001118
Metaphyseal striations		0031367
Microdontia	Decreased width of tooth	0000691
Nail dysplasia	Atypical nail growth	0002164
Osteopenia		0000938
Selective tooth agenesis		0001592
Short thumb	Short thumbs Small thumbs [ more ]	0009778
Small nail	Small nails	0001792
Telangiectasia of the skin		0100585
Vomiting	Throwing up	0002013
1%-4% of people have these symptoms
Agenesis of permanent teeth	Failure of development of permanent teeth Missing teeth [ more ]	0006349
Alopecia totalis		0007418
Anemia	Low number of red blood cells or hemoglobin	0001903
Aplastic anemia		0001915
Basal cell carcinoma		0002671
Calcinosis	Calcium buildup in soft tissues of body	0003761
Intellectual disability	Mental deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more ]	0001249
Leukemia		0001909
Melanoma		0002861
Myelodysplasia		0002863
Nasogastric tube feeding in infancy		0011470
Neutropenia	Low blood neutrophil count Low neutrophil count [ more ]	0001875
Osteosarcoma	Bone cell cancer	0002669
Porokeratosis		0200044
Sparse hair		0008070
Squamous cell carcinoma		0002860
Percent of people who have these symptoms is not available through HPO
Alopecia	Hair loss	0001596
Annular pancreas		0001734
Anteriorly placed anus		0001545
Autosomal recessive inheritance		0000007
Congenital hip dislocation	Dislocated hip since birth	0001374
Cryptorchidism	Undescended testes Undescended testis [ more ]	0000028
Cutaneous photosensitivity	Photosensitive skin Photosensitive skin rashes Photosensitivity Sensitivity to sunlight Skin photosensitivity Sun sensitivity [ more ]	0000992
Dermal atrophy	Skin degeneration	0004334
Forearm reduction defects		0006368
Frontal bossing		0002007
Glaucoma		0000501
Hypogonadism	Decreased activity of gonads	0000135
Kyphoscoliosis		0002751
Mandibular prognathia	Big lower jaw Increased projection of lower jaw Increased size of lower jaw Large lower jaw Prominent chin Prominent lower jaw [ more ]	0000303
Microcornea	Cornea of eye less than 10mm in diameter	0000482
Microphthalmia	Abnormally small eyeball	0000568
Osteoporosis		0000939
Premature graying of hair	Early graying Premature graying Premature greying Premature hair graying [ more ]	0002216
Short foot	Short feet Small feet [ more ]	0001773
Short nose	Decreased length of nose Shortened nose [ more ]	0003196
Short palm		0004279
Small hand	Disproportionately small hands	0200055
Strabismus	Cross-eyed Squint Squint eyes [ more ]	0000486
Talipes equinovarus	Club feet Club foot Clubfeet Clubfoot [ more ]	0001762
Telangiectasia		0001009
Zonular cataract		0010920

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Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 2/1/2021

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Inheritance Inheritance

Rothmund-Thomson syndrome is inherited in an autosomal recessive manner.^[1] This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. Affected people inherit one mutated copy of the gene from each parent, who is referred to as a carrier. Carriers of an autosomal recessive condition typically do not have any signs or symptoms (they are unaffected). When 2 carriers of an autosomal recessive condition have children, each child has a:

25% (1 in 4) chance to be affected
50% (1 in 2) chance to be an unaffected carrier like each parent
25% chance to be unaffected and not be a carrier

When an affected person has children:

If his/her partner is not a carrier of the condition, each of their children will be an unaffected carrier.
If his/her partner is a carrier, each child has a 50% chance to be an unaffected carrier, and a 50% chance to be affected.
If his/her partner is also affected, all children will be affected.

Given the rarity of Rothmund-Thomson syndrome, the likelihood that an affected person will have children with a carrier is very low. Exceptions include areas in which a founder mutation may be present (e.g., Western Austria, where the syndrome was first described) and the Mennonite population.^[1]

People with personal questions about specific genetic risks for themselves or family members are encouraged to speak with a genetic counselor or other genetics professional.

Last updated: 3/10/2016

Diagnosis Diagnosis

Yes. Molecular genetic testing of the RECQL4 gene (the only gene known to cause Rothmund-Thomson syndrome) is available for people who have been clinically diagnosed or for those with an inconclusive clinical diagnosis. Identifying mutations in both copies of this gene establishes the diagnosis. However, only about 66% of people (two-thirds) with a clinical diagnosis are found to have mutations. In the remaining one-third of people, the genetic cause is unknown.^[1]

If RECQL4 mutations are identified in an affected person, prenatal testing and/or preimplantation genetic diagnosis for a pregnancy at increased risk are possible options. While ultrasounds during pregnancy may detect an abnormality associated with the condition, the absence of abnormalities on ultrasound in a fetus does not exclude the possibility that the fetus is affected.^[1]

The Genetic Testing Registry (GTR) provides information about the genetic tests available for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Last updated: 3/10/2016

Find a Specialist Find a Specialist

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from MedlinePlus Genetics.

Related Diseases Related Diseases

Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
The differential diagnosis should include other causes of childhood poikiloderma and other rare genodermatoses with prominent telangiectasias (including Bloom syndrome, xeroderma pigmentosum, Kindler syndrome, poikiloderma with neutropenia, and dyskeratosis congenita; see these terms), and the allelic disorders, RAPADILINO syndrome (in which radial ray defects are a constant feature, poikiloderma is absent and the risk of malignancy is lower) and Baller-Gerold syndrome (which is associated with craniosynostosis; see these terms). Visit the Orphanet disease page for more information.

Conditions with similar signs and symptoms from Orphanet

The differential diagnosis should include other causes of childhood poikiloderma and other rare genodermatoses with prominent telangiectasias (including Bloom syndrome, xeroderma pigmentosum, Kindler syndrome, poikiloderma with neutropenia, and dyskeratosis congenita; see these terms), and the allelic disorders, RAPADILINO syndrome (in which radial ray defects are a constant feature, poikiloderma is absent and the risk of malignancy is lower) and Baller-Gerold syndrome (which is associated with craniosynostosis; see these terms).

Visit the Orphanet disease page for more information.

Research Research

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

ClinicalTrials.gov lists trials that are related to Rothmund-Thomson syndrome. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

Organizations Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

Genetic Skin Disease Center
Stanford Medical Dermatology Clinic
Stanford Medicine Outpatient Center
450 Broadway
Pavilion B, 4th Floor
Redwood City, CA 94063
Telephone: 650-723-6316
Fax: 650-725-7711
Website: http://dermatology.stanford.edu/contact/
National Foundation for Ectodermal Dysplasias
6 Executive Drive
Suite 2
Fairview Heights, IL 62258-1360
Telephone: +1-618-566-2020
Fax: +1-618-566-4718
E-mail: info@nfed.org
Website: https://www.nfed.org/
Rothmund-Thomson Syndrome Foundation
4307 Woodward Court
Chantilly, VA 20151
E-mail: rtssupport@rtsplace.org
Website: http://rtsplace.org/
The Ectodermal Dysplasia Society
Unit 1 Maida Vale Business Centre
Leckhampton
Cheltenham
Gloucestershire GL53 7ER
United Kingdom
Telephone: +44 (0) 1242 261332
E-mail: info@edsociety.co.uk
Website: https://edsociety.co.uk/

Do you know of an organization? We want to hear from you.

Learn More Learn More

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

The American Cancer Society provides a detailed guide on osteosarcoma. Click on the above link to access this information.
DermNet NZ is an online resource about skin diseases developed by the New Zealand Dermatological Society Incorporated. DermNet NZ provides information about this condition.
Genetics Home Reference (GHR) contains information on Rothmund-Thomson syndrome. This website is maintained by the National Library of Medicine.
The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
PubMed is a searchable database of medical literature and lists journal articles that discuss Rothmund-Thomson syndrome. Click on the link to view a sample search on this topic.

News & Events News & Events

News

Rare Disease Day at NIH 2021
March 1, 2021

GARD Answers GARD Answers

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

Have a question? Contact a GARD Information Specialist.

References References

Lisa L Wang and Sharon E Plon. Rothmund-Thomson Syndrome. GeneReviews. December 3, 2015; http://www.ncbi.nlm.nih.gov/books/NBK1237/.
Lidia LarizzaEmail author, Gaia Roversi and Ludovica Volpi. Rothmund-Thomson Syndrome. Orphanet J Rare Dis. 2010; 5:2:http://ojrd.biomedcentral.com/articles/10.1186/1750-1172-5-2.
Rothmund-Thomson syndrome. Genetics Home Reference. August, 2013; https://ghr.nlm.nih.gov/condition/rothmund-thomson-syndrome.

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