National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Rothmund-Thomson syndrome


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:
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

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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HPO ID
80%-99% of people have these symptoms
Abnormal blistering of the skin
Blistering, generalized
Blisters
[ more ] 		0008066
Cutaneous photosensitivity
Photosensitive skin
Photosensitive skin rashes
Photosensitivity
Sensitivity to sunlight
Skin photosensitivity
Sun sensitivity
[ more ] 		0000992
Cutis marmorata 0000965
Dermal atrophy
Skin degeneration
0004334
Erythema 0010783
Hypopigmented skin patches
Patchy loss of skin color
0001053
Irregular hyperpigmentation 0007400
Poikiloderma 0001029
Short stature
Decreased body height
Small stature
[ more ] 		0004322
30%-79% of people have these symptoms
Abnormal fingernail morphology
Abnormal fingernails
Abnormality of the fingernails
[ more ] 		0001231
Abnormality of corneal size 0001120
Carious teeth
Dental cavities
Tooth cavities
Tooth decay
[ more ] 		0000670
Deeply set eye
Deep set eye
Deep-set eyes
Sunken eye
[ more ] 		0000490
Dry skin 0000958
Epicanthus
Eye folds
Prominent eye folds
[ more ] 		0000286
External ear malformation 0008572
Frontal bossing 0002007
Hypertelorism
Wide-set eyes
Widely spaced eyes
[ more ] 		0000316
Hypogonadism
Decreased activity of gonads
0000135
Joint hyperflexibility
Joints move beyond expected range of motion
0005692
Juvenile cataract 0001118
Limitation of joint mobility
Decreased joint mobility
Decreased mobility of joints
Limited joint mobility
Limited joint motion
[ more ] 		0001376
Microcephaly
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ] 		0000252
Micrognathia
Little lower jaw
Small jaw
Small lower jaw
[ more ] 		0000347
Nail dystrophy
Poor nail formation
0008404
Opacification of the corneal stroma 0007759
Osteosarcoma
Bone cell cancer
0002669
Palmoplantar hyperkeratosis
Thickening of the outer layer of the skin of the palms and soles
0000972
Scoliosis 0002650
Short philtrum 0000322
Small for gestational age
Birth weight less than 10th percentile
Low birth weight
[ more ] 		0001518
Sparse and thin eyebrow
Thin, sparse eyebrows
0000535
Sparse eyelashes
Scant eyelashes
Scanty eyelashes
Thin eyelashes
[ more ] 		0000653
5%-29% of people have these symptoms
Abnormal immunoglobulin level 0010701
Abnormal sacrum morphology 0005107
Abnormality of the adrenal glands
Adrenal abnormalities
0000834
Abnormality of the metacarpal bones
Abnormality of the long bone of hand
0001163
Abnormality of the ulna 0002997
Anemia
Low number of red blood cells or hemoglobin
0001903
Aplasia/Hypoplasia of the radius 0006501
Aplasia/Hypoplasia of the thumb
Absent/small thumb
Absent/underdeveloped thumb
[ more ] 		0009601
Arthrogryposis multiplex congenita 0002804
Basal cell carcinoma 0002671
Bronchiectasis
Permanent enlargement of the airways of the lungs
0002110
Congenital hip dislocation
Dislocated hip since birth
0001374
Craniosynostosis 0001363
Forearm reduction defects 0006368
Glaucoma 0000501
Global developmental delay 0001263
Hypertension 0000822
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] 		0001249
Keratoconus
Bulging cornea
0000563
Lymphoma
Cancer of lymphatic system
0002665
Malabsorption
Intestinal malabsorption
0002024
Myelodysplasia 0002863
Nausea and vomiting 0002017
Neoplasm of the stomach
Stomach tumor
0006753
Nephropathy 0000112
Neutropenia
Low blood neutrophil count
Low neutrophil count
[ more ] 		0001875
Oral cleft
Cleft of the mouth
0000202
Osteopenia 0000938
Patellar hypoplasia
Small kneecap
Underdeveloped kneecap
[ more ] 		0003065
Premature graying of hair
Early graying
Premature graying
Premature greying
Premature hair graying
[ more ] 		0002216
Ptosis
Drooping upper eyelid
0000508
Pyloric stenosis 0002021
Reduced number of teeth
Decreased tooth count
0009804
Sensorineural hearing impairment 0000407
Skin ulcer
Open skin sore
0200042
Squamous cell carcinoma 0002860
1%-4% of people have these symptoms
Agenesis of permanent teeth
Failure of development of permanent teeth
Missing teeth
[ more ] 		0006349
Delayed eruption of teeth
Delayed eruption
Delayed teeth eruption
Delayed tooth eruption
Eruption, delayed
Late eruption of teeth
Late tooth eruption
[ more ] 		0000684
Sparse hair 0008070
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
Cryptorchidism
Undescended testes
Undescended testis
[ more ] 		0000028
Increased number of teeth
Extra teeth
Increased tooth count
Supplemental teeth
[ more ] 		0011069
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
Microdontia
Decreased width of tooth
0000691
Microphthalmia
Abnormally small eyeball
0000568
Osteoporosis 0000939
Short foot
Short feet
Small feet
[ more ] 		0001773
Short nose
Decreased length of nose
Shortened nose
[ more ] 		0003196
Short palm 0004279
Short thumb
Short thumbs
Small thumbs
[ more ] 		0009778
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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Last updated: 7/1/2020
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
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

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

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.

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.

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

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.

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.

  1. Lisa L Wang and Sharon E Plon. Rothmund-Thomson Syndrome. GeneReviews. December 3, 2015; http://www.ncbi.nlm.nih.gov/books/NBK1237/.
  2. 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.
  3. Rothmund-Thomson syndrome. Genetics Home Reference. August, 2013; https://ghr.nlm.nih.gov/condition/rothmund-thomson-syndrome.