{"orpha":221016,"name":"Rothmund-Thomson syndrome type 2","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["RTS2","Poikiloderma of Rothmund-Thomson type 2"],"definition":"Rothmund-Thomson syndrome type 2 is a subform of Rothmund-Thomson syndrome (RTS) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, congenital bone defects and an increased risk of osteosarcoma in childhood and squamous cell carcinoma later in life.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-221016/","orphanet_url":"https://www.orpha.net/en/disease/detail/221016","names":{"fr":{"name":"Syndrome de Rothmund-Thomson type 2","synonyms":["Poïkilodermie de Rothmund-Thomson type 2"],"definition":"Le syndrome de Rothmund-Thomson de type 2 est une forme du syndrome de Rothmund-Thomson (SRT) se manifestant par un érythème facial caractéristique (poïkilodermie) souvent associé à une petite taille, des cheveux clairsemés, des cils et/ou des sourcils clairsemés ou absents, des anomalies osseuses congénitales et un risque accru d'ostéosarcome dans l'enfance et de carcinome à cellules squameuses à un âge plus avancé."},"de":{"name":"Rothmund-Thomson-Syndrom Typ 2","synonyms":["Poikilodermie Rothmund-Thomson Typ 2","RTS2"],"definition":"Der Typ 2 des Rothmund-Thomson-Syndroms ist eine Unterform des Rothmund-Thomson-Syndroms (RTS) und gekennzeichnet durch eine charakteristische faziale Effloreszenz (Poikiloderma). Häufig geht RTS2 mit Kleinwuchs, schütterem Kopfhaar, spärlichen oder fehlenden Wimpern und/oder Augenbrauen, angeborenen Knochendefekten und einem erhöhten Risiko für das Auftreten eines Osteosarkoms im Kindesalter und eines Plattenepithelkarzinoms im späteren Leben einher."},"es":{"name":"Síndrome de Rothmund-Thomson tipo 2","synonyms":["Poiquilodermia de Rothmund-Thomson tipo 2","SRT2"],"definition":"El síndrome Rothmund-Thomson tipo 2 es una subforma del síndrome Rothmund-Thomson (RTS), que se presenta con un eritema facial característico (poiquilodermia) y frecuentemente se asocia con estatura baja, cabello escaso, cejas y pestañas escasas y/o ausentes, defectos óseos congénitos y un riesgo elevado de osteosarcoma en niños y carcinoma de células escamosas en edades más avanzadas."},"it":{"name":"Sindrome di Rothmund-Thomson, tipo 2","synonyms":["Poichilodermia di Rothmund-Thomson, tipo 2","RTS2"],"definition":"La sindrome di Rothmund-Thomson di tipo 2 è una sottoforma della sindrome di Rothmund-Thomson (RTS; si veda questo termine) che esordisce con un caratteristico rash facciale (poichiloderma), associato spesso a bassa statura, capelli radi, ciglia e/o sopracciglia rade, difetti scheletrici congeniti e rischio elevato di sviluppare un osteosarcoma nell'infanzia e successivamente un carcinoma a cellule squamose."},"nl":{"name":"Syndroom van Rothmund-Thomson type 2","synonyms":["Poikilodermie van Rothmund-Thomson type 2","RTS2"],"definition":"Syndroom van Rothmund-Thomson type 2 is een vorm van syndroom van Rothmund-Thomson (RTS) die zich presenteert met een typische huiduitslag op het aangezicht (poikilodermie), vaak geassocieerd met kleine gestalte, schaars haar op scalp, schaarse of afwezige wimpers en/of wenkbrauwen, congenitale defecten van bot, en verhoogd risico op osteosarcoom in de kindertijd en plaveiselcelcarcinoom op latere leeftijd."},"pt":{"name":"Síndrome de Rothmund-Thomson tipo 2"},"pl":{"name":"Zespół Rothmunda i Thomsona typu 2","synonyms":["Poikilodermia Rothmunda i Thomsona typu 2","RTS2"]},"cs":{"name":"Rothmundův-Thomsonův syndrom, typ 2","synonyms":["Rothmundova-Thomsonova poikilodermie, typ 2","RTS2","Rothmund-Thomsonův syndrom, typ 2","Rothmund-Thomsonova poikilodermie, typ 2"]},"uk":{"name":"Синдром Ротмунда-Томсона, тип 2","synonyms":["Пойкилодермія Ротмунда-Томсона типу 2","RTS2"],"definition":"Rothmund-Thomson syndrome type 2 is a subform of Rothmund-Thomson syndrome (RTS; see this term) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, congenital bone defects and an increased risk of osteosarcoma in childhood and squamous cell carcinoma later in life."},"zh":{"name":"Rothmund-Thomson综合征2型","synonyms":["Rothmund-Thomson综合征2型皮肤异色症"],"definition":"Rothmund-Thomson综合征2型是Rothmund-Thomson综合征（RTS；见该词条）的一个亚型，表现为特征性的面部皮疹（皮肤异色症），常伴有身材矮小、头发稀疏、睫毛和/或眉毛稀疏或缺失、先天性骨缺损，儿童骨肉瘤和晚期鳞状细胞癌的风险增加。"},"tr":{"name":"Rothmund-Thomson sendromu tip 2","synonyms":["RTS2","Rothmund-Thomson tip 2'nin Poikiloderması"]}},"xrefs":[{"source":"OMIM","code":"268400","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q82.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2B","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"2111040755"},{"source":"MONDO","code":"0016369","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5203410","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":183422,"name":"Polymalformative genetic syndrome with increased risk of developing cancer","classifications":[156,202]},{"orpha":2909,"name":"Rothmund-Thomson syndrome","classifications":[147,156,187,189]}],"children":[],"genes":[{"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"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":200.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-10-23","source":"27287744[PMID]_31303264[PMID]_20301415[PMID]","terms":[{"hpo":"HP:0010783","label":"Erythema","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000953","label":"Hyperpigmentation of the skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001010","label":"Hypopigmentation of the skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001029","label":"Poikiloderma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000164","label":"Abnormality of the dentition","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100840","label":"Aplasia/Hypoplasia of the eyebrow","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004334","label":"Dermal atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001041","label":"Facial erythema","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005775","label":"Multiple skeletal anomalies","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002164","label":"Nail dysplasia","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:0008070","label":"Sparse hair","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200102","label":"Sparse or absent eyelashes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008066","label":"Abnormal blistering of the skin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100671","label":"Abnormal trabecular bone morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000682","label":"Abnormality of dental enamel","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010978","label":"Abnormality of immune system physiology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003995","label":"Abnormality of the radial head","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004039","label":"Abnormality of ulnar metaphysis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007418","label":"Alopecia totalis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001903","label":"Anemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006496","label":"Aplasia/hypoplasia involving bones of the upper limbs","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002671","label":"Basal cell carcinoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000670","label":"Carious teeth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001875","label":"Decreased total neutrophil count","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000684","label":"Delayed eruption of teeth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002750","label":"Delayed skeletal maturation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000519","label":"Developmental cataract","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:0012719","label":"Functional abnormality of the gastrointestinal tract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002970","label":"Genu varum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001373","label":"Joint dislocation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003189","label":"Long nose","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002665","label":"Lymphoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004979","label":"Metaphyseal sclerosis","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:0002863","label":"Myelodysplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040288","label":"Nasogastric tube feeding","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:0002669","label":"Osteosarcoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006443","label":"Patellar aplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003065","label":"Patellar hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002756","label":"Pathologic fracture","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007556","label":"Plantar hyperkeratosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010049","label":"Short metacarpal","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009803","label":"Short phalanx of finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000417","label":"Slender nose","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002860","label":"Squamous cell carcinoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100238","label":"Synostosis involving bones of the upper limbs","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009804","label":"Tooth agenesis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002013","label":"Vomiting","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001915","label":"Aplastic anemia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0003761","label":"Calcinosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0009700","label":"Finger symphalangism","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001118","label":"Juvenile cataract","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:0200044","label":"Porokeratosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Excluded (0%)","criteria":null}]}}