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Disease Profile
Rothmund-Thomson syndrome
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
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.
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.
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.
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.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
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.
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.
Not applicable
Other names (AKA)
Poikiloderma of Rothmund-Thomson; Poikiloderma atrophicans and cataract; Poikiloderma Congenitale;
Categories
Congenital and Genetic Diseases
Summary
Rothmund-Thomson
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 | ||
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 |
Abnormal susceptibility to fractures
Bone fragility
Frequent broken bones
Increased bone fragility
Increased tendency to fractures
[ more ] |
0002659 | |
Juvenile |
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 | ||
Low number of red blood cells or hemoglobin
|
0001903 | ||
Aplastic anemia | 0001915 | ||
Basal |
0002671 | ||
Calcinosis |
Calcium buildup in soft tissues of body
|
0003761 | |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 | ||
Leukemia | 0001909 | ||
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 | ||
0000007 | |||
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
If RECQL4 mutations are identified in an affected person, prenatal testing and/or 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. Related diseasesRelated 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.
OrganizationsSupport 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 moreThese 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
In-Depth Information
References
Rare Gastroenterology News |