{"orpha":2909,"name":"Rothmund-Thomson syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Poikiloderma of Rothmund-Thomson","RTS"],"definition":"A rare syndrome characterized by 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 cancer susceptibility.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2909/","orphanet_url":"https://www.orpha.net/en/disease/detail/2909","names":{"fr":{"name":"Syndrome de Rothmund-Thomson","synonyms":["Poïkilodermie de Rothmund-Thomson"],"definition":"Syndrome rare caractérisé par une éruption cutanée faciale (poïkilodermie) associée à une petite taille due à un retard de croissance pré- et postnatal, des cheveux clairsemés, des cils et/ou des sourcils épars ou absents, une cataracte juvénile, des anomalies squelettiques, des anomalies de l'axe radial, un vieillissement prématuré et une prédisposition au cancer."},"de":{"name":"Rothmund-Thomson-Syndrom","synonyms":["Poikilodermie Rothmund-Thomson"],"definition":"Ein seltenes Syndrom, das durch Gesichtsausschlag (Poikiloderma) in Verbindung mit Kleinwuchs aufgrund von prä- und postnataler Wachstumsverzögerung, spärlichem Kopfhaar, spärlichen oder fehlenden Wimpern und/oder Augenbrauen, jugendlichem Katarakt, Skelettanomalien, Radialstrahlendefekten, vorzeitigem Altern und Krebsanfälligkeit gekennzeichnet ist."},"es":{"name":"Síndrome de Rothmund-Thomson","definition":"Es un síndrome poco frecuente caracterizado por erupción facial (poiquilodermia) asociada a talla baja por retraso del crecimiento pre- y posnatal, cabello escaso, pestañas y/o cejas escasas o ausentes, cataratas juveniles, anomalías esqueléticas, defectos de los ejes radiales, envejecimiento prematuro y susceptibilidad al cáncer."},"it":{"name":"Sindrome di Rothmund-Thomson","synonyms":["Poichilodermia di Rothmund-Thomson"]},"nl":{"name":"Syndroom van Rothmund-Thomson","synonyms":["Poikilodermie van Rothmund-Thomson","RTS"],"definition":"Een zeldzaam syndroom, gekenmerkt door huiduitslag in het aangezicht (poikilodermie), geassocieerd met kleine gestalte door pre- en postnatale groeiachterstand, schaars haar op scalp, schaarse of afwezige wimpers en/of wenkbrauwen, juveniel cataract, skeletanomalieën, defecten van radiale straal, premature veroudering, en vatbaarheid voor kanker."},"pt":{"name":"Síndrome Rothmund-Thomson","synonyms":["Poiquilodermia de Rothmund-Thomson","RTS"]},"pl":{"name":"Zespół Rothmunda i Thomsona","synonyms":["Poikilodermia Rothmunda i Thomsona","RTS"]},"cs":{"name":"Rothmundův-Thomsonův syndrom","synonyms":["Rothmundova-Thomsonova poikilodermie","RTS","Rothmund-Thomsonův syndrom","Rothmund-Thomsonova poikilodermie"]},"uk":{"name":"Синдром Ротмунда-Томсона","synonyms":["Пойкилодермія Ротмунда-Томсона","RTS"],"definition":"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."},"zh":{"name":"Rothmund-Thomson 综合征","synonyms":["Rothmund-Thomson皮肤异色病"]},"tr":{"name":"Rothmund-Thomson sendromu","synonyms":["RTS","Rothmund-Thomson poikiloderması"]}},"xrefs":[{"source":"OMIM","code":"268400","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615789","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618625","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"620819","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q82.8","qualifier":"NTBT","icd_relation":"index","validated":true},{"source":"ICD-11","code":"LD2B","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"652761118"},{"source":"MONDO","code":"0010002","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D011038","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0032339","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4392","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":3333,"name":"Connective tissue dysplasia, Spellacy type","status":"inactive"}],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":98649,"name":"Dentocutaneous disease with cataract","classifications":[156,189]},{"orpha":183490,"name":"Genetic photodermatosis","classifications":[156]},{"orpha":363245,"name":"Genetic progeroid syndrome","classifications":[156]},{"orpha":222628,"name":"Hereditary poikiloderma","classifications":[156,187]},{"orpha":139033,"name":"Progeroid syndrome","classifications":[147]},{"orpha":79390,"name":"Rare photodermatosis","classifications":[187]}],"children":[{"orpha":221008,"name":"Rothmund-Thomson syndrome type 1","type":"Clinical subtype"},{"orpha":221016,"name":"Rothmund-Thomson syndrome type 2","type":"Clinical subtype"},{"orpha":715640,"name":"Rothmund-Thomson syndrome type 3","type":"Clinical subtype"},{"orpha":715635,"name":"Rothmund-Thomson syndrome type 4","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"ANAPC1","name":"anaphase promoting complex subunit 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"31303264[PMID]","hgnc":"19988","ensembl":"ENSG00000153107","omim":"608473","loci":["2q13"],"via":{"orpha":221008,"name":"Rothmund-Thomson syndrome type 1"}},{"symbol":"CRIPT","name":"CXXC repeat containing interactor of PDZ3 domain","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24389050[PMID]","hgnc":"14312","ensembl":"ENSG00000119878","omim":"604594","loci":["2p21"],"via":{"orpha":715640,"name":"Rothmund-Thomson syndrome type 3"}},{"symbol":"DNA2","name":"DNA replication helicase/nuclease 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"37055165[PMID]","hgnc":"2939","ensembl":"ENSG00000138346","omim":"601810","loci":["10q21.3"],"via":{"orpha":715635,"name":"Rothmund-Thomson syndrome type 4"}},{"symbol":"RECQL4","name":"RecQ like helicase 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20503338[PMID]_20301415[PMID]","hgnc":"9949","ensembl":"ENSG00000160957","omim":"603780","loci":["8q24.3"],"via":{"orpha":221016,"name":"Rothmund-Thomson syndrome type 2"}}],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":500.0,"area":"Worldwide","status":"Validated","source":"20301415[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"20301415[PMID]_ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-06-03","source":"20301415[PMID]_11471165[PMID]","terms":[{"hpo":"HP:0025300","label":"Malar rash","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001029","label":"Poikiloderma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000988","label":"Skin rash","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008066","label":"Abnormal blistering of the skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000164","label":"Abnormality of the dentition","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000924","label":"Abnormality of the skeletal system","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000789","label":"Infertility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010765","label":"Palmar hyperkeratosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007556","label":"Plantar hyperkeratosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004349","label":"Reduced bone mineral density","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007588","label":"Reticular hyperpigmentation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001518","label":"Small for gestational age","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0045075","label":"Sparse eyebrow","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000653","label":"Sparse eyelashes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008070","label":"Sparse hair","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001597","label":"Abnormal nail morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100671","label":"Abnormal trabecular bone morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001871","label":"Abnormality of blood and blood-forming tissues","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000682","label":"Abnormality of dental enamel","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006498","label":"Aplasia/Hypoplasia of the patella","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006501","label":"Aplasia/Hypoplasia of the radius","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008065","label":"Aplasia/Hypoplasia of the skin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003993","label":"Broad ulna","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000670","label":"Carious teeth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000684","label":"Delayed eruption of teeth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002014","label":"Diarrhea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000282","label":"Facial edema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001010","label":"Hypopigmentation of the skin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000685","label":"Hypoplasia of teeth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003022","label":"Hypoplasia of the ulna","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002659","label":"Increased susceptibility to fractures","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001118","label":"Juvenile cataract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031367","label":"Metaphyseal striations","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000691","label":"Microdontia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002164","label":"Nail dysplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008069","label":"Neoplasm of the skin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000938","label":"Osteopenia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001592","label":"Selective tooth agenesis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009778","label":"Short thumb","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001792","label":"Small nail","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011069","label":"Supernumerary tooth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100585","label":"Telangiectasia of the skin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002013","label":"Vomiting","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007418","label":"Alopecia totalis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001903","label":"Anemia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001915","label":"Aplastic anemia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002671","label":"Basal cell carcinoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0003761","label":"Calcinosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001875","label":"Decreased total neutrophil count","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001909","label":"Leukemia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002861","label":"Melanoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002863","label":"Myelodysplasia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0011470","label":"Nasogastric tube feeding in infancy","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0200044","label":"Porokeratosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002860","label":"Squamous cell carcinoma","frequency":"Very rare (<4-1%)","criteria":null}]}}