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Disease Profile

Rothmund-Thomson syndrome

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

Infancy

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ICD-10

Q82.8

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Poikiloderma of Rothmund-Thomson; Poikiloderma atrophicans and cataract; Poikiloderma Congenitale;

Categories

Congenital and Genetic Diseases

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]

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.

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 sen

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.

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

    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.

        References

        1. Lisa L Wang and Sharon E Plon. Rothmund-Thomson Syndrome. GeneReviews. December 3, 2015; https://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:https://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.

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