{"orpha":404443,"name":"Tatton-Brown-Rahman syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["DNMT3A-related overgrowth syndrome","Tatton-Brown-Rahman overgrowth syndrome"],"definition":"A rare multiple congenital anomalies syndrome characterized by tall stature due to postnatal overgrowth, mild to moderate intellectual disability, joint hypermobility and subtle distinctive facial features, which often become apparent during adolescence (such as round face, low-set, thick horizontal eyebrows, narrow palpebral fissures and prominent upper-central incisors). Overweight, hypotonia, behavioral and psychiatric problems are common. Other clinical features may involve seizures, cryptorchidism and cardiovascular diseases (including congenital heart disease and aortic root dilatation).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-404443/","orphanet_url":"https://www.orpha.net/en/disease/detail/404443","names":{"fr":{"name":"Syndrome de Tatton-Brown-Rahman","synonyms":["Syndrome de croissance excessive lié à DNMT3A"],"definition":"Syndrome rare d'anomalies congénitales multiples caractérisé par une grande taille due à une croissance postnatale excessive, une déficience intellectuelle légère à modérée et des traits faciaux subtils et distinctifs, qui deviennent souvent plus manifestes à l'adolescence, à savoir un visage rond, des sourcils épais implantés bas et de manière horizontale, des fentes palpébrales étroites et des incisives centrales supérieures proéminentes. Une hypermobilité articulaire, une hypotonie et une scoliose sont fréquentes."},"de":{"name":"Tatton-Brown-Rahman-Syndrom","synonyms":["DNMT3A-abhängiges Großwuchs-Syndrom","Tatton-Brown-Rahman-Großwuchs-Syndrom"],"definition":"Ein seltenes Syndrom mit multiplen angeborenen Anomalien, das durch eine hohe Statur aufgrund von postnatalem Überwachsen, leichter bis mittelschwerer Intelligenzminderung, Gelenkhypermobilität und subtilen, charakteristischen Gesichtszügen gekennzeichnet ist, die oft in der Jugend sichtbar werden (z. B. rundes Gesicht, tief angesetzte, dicke, waagerechte Augenbrauen, schmale Lidspalten und hervorstehende obere mittlere Schneidezähne). Übergewicht, Hypotonie, Verhaltens- und psychiatrische Probleme sind häufig. Andere klinische Merkmale können Anfälle, Kryptorchismus und Herz-Kreislauf-Erkrankungen (einschließlich angeborener Herzfehler und Aortenwurzeldilatation) umfassen."},"es":{"name":"Síndrome de Tatton-Brown-Rahman","synonyms":["Síndrome de sobrecrecimiento asociado a DNMT3A","Síndrome de sobrecrecimiento de Tatton-Brown-Rahman"],"definition":"Es un síndrome poco frecuente de anomalías congénitas múltiples caracterizado por talla alta debido a un sobrecrecimiento posnatal, discapacidad intelectual de leve a moderada, hipermovilidad articular y rasgos faciales distintivos sutiles, que a menudo se hacen evidentes durante la adolescencia (como cara redondeada, cejas horizontales gruesas y de implantación baja, fisuras palpebrales estrechas y prominencia de los incisivos centrales superiores). Son comunes el sobrepeso, la hipotonía y los problemas psiquiátricos y de conducta. Otras características clínicas pueden incluir crisis epilépticas, criptorquidia y enfermedades cardiovasculares (incluyendo cardiopatías congénitas y dilatación de la raíz aórtica)."},"it":{"name":"Sindrome alta statura-disabilità intellettiva-dismorfismi facciali","synonyms":["Sindrome da iperaccrescimento DNMT3A-correlato","Sindrome da iperaccrescimento di Tatton-Brown-Rahman"],"definition":"Si tratta di una malattia rara da anomalie congenite multiple, caratterizzata da alta statura, disabilità intellettiva lieve-moderata e facies caratteristica (viso arrotondato, sopracciglia orizzontali folte e rime palpebrali strette)."},"nl":{"name":"Syndroom van Tatton-Brown-Rahman","synonyms":["DNMT3A-gerelateerd overgroeisyndroom","Overgroeisyndroom van Tatton-Brown-Rahman"],"definition":"Een zeldzaam syndroom met multipele congenitale anomalieën, gekenmerkt door lange gestalte door postnatale overgroei, milde tot matige intellectuele achterstand, gewrichtshypermobiliteit, en subtiele typische gelaatskenmerken, die vaak merkbaar worden tijdens de adolescentie (zoals rond gelaat, laagstaande, dikke en horizontale wenkbrauwen, smalle ooglidspleten, en uitstekende bovenste centrale snijtanden). Overgewicht, hypotonie, gedragsproblemen en psychiatrische problemen zijn gangbaar. Overige klinische kenmerken die kunnen voorkomen, zijn onder meer insulten, cryptorchisme en cardiovasculaire aandoeningen (waaronder congenitale hartziekte en dilatatie van aortawortel)."},"pt":{"name":"Síndrome Tatton-Brown-Rahman","definition":"Síndrome de anomalias congénitas múltiplas rara caracterizada por uma estatura elevada devido ao crescimento excessivo pós-natal, perturbação do desenvolvimento intelectual ligeira a moderada, hipermobilidade articular e características faciais subtis e distintas, que geralmente tornam-se evidentes durante a adolescência (face redonda, sobrancelhas horizontais grossas e baixas, fissuras palpebrais estreitas e incisivos centrais superiores proeminentes). O excesso de peso, hipotonia, problemas comportamentais e psiquiátricos são comuns. Outras características clínicas podem envolver convulsões, criptorquidia e doenças cardiovasculares (incluindo cardiopatia congénita e dilatação da raiz aórtica)."},"pl":{"name":"Zespół wysoki wzrost-niepełnosprawność intelektualna-dysmorfia twarzy","synonyms":["Zespół przerostu zwiazany z DNMT3A"],"definition":"Rzadki zespół mnogich wad wrodzonych charakteryzujący się wysokim wzrostem wynikającym z poporodowego przerostu, łagodną lub umiarkowaną niepełnosprawnością intelektualną, nadmierną ruchomością stawów i subtelnymi, charakterystycznymi rysami twarzy, które często widoczne są w okresie dojrzewania (okrągła twarz, nisko osadzone, grube poziomo ułożone brwi, wąskie szpary powiekowe i wydatne górne środkowe siekacze). Często występuje nadwaga, obniżone napięcie, problemy behawioralne i psychiatryczne. Mogą wystąpić drgawki, wnętrostwo i choroby sercowo-naczyniowe (w tym wrodzone wady serca i poszerzenie pnia aorty)."},"cs":{"name":"Syndrom zahrnující vysoký vzrůst, mentální retardaci a faciální dysmorfismus","synonyms":["DNMT3A-vázaný syndrom nadměrného vzrůstu"]},"uk":{"name":"Синдром Таттона-Брауна-Рахмана","synonyms":["Синдром надмірного росту, повязаний з DNMT3A","Синдром надмірного росту Тейттона-Брауна-Рахмана"],"definition":"A rare multiple congenital anomalies syndrome characterized by tall stature due to postnatal overgrowth, mild to moderate intellectual disability, joint hypermobility and subtle distinctive facial features, which often become apparent during adolescence (such as round face, low-set, thick horizontal eyebrows, narrow palpebral fissures and prominent upper-central incisors). Overweight, hypotonia, behavioral and psychiatric problems are common. Other clinical features may involve seizures, cryptorchidism and cardiovascular diseases (including congenital heart disease and aortic root dilatation)."},"zh":{"name":"身材高大-智力障碍-面部畸形综合征","synonyms":["塔顿-布朗-拉赫曼过度生长综合征"],"definition":"一种罕见的多发性先天性畸形综合征，其特征是身高较高，轻度至中度智力障碍以及独特的面部表情，例如圆脸，眉毛水平且浓密和狭窄的睑裂。"},"tr":{"name":"Uzun boy-zihinsel yetersizlik-yüz dismorfizm sendromu","synonyms":["DNMT3A-ilişkili aşırı büyüme sendromu","Tatton-Brown-Rahman aşırı büyüme sendromu"]}},"xrefs":[{"source":"OMIM","code":"615879","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2C","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014382","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4014545","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":93460,"name":"Overgrowth syndrome","classifications":[147,156]}],"children":[],"genes":[{"symbol":"DNMT3A","name":"DNA methyltransferase 3 alpha","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24614070[PMID]_27701732[PMID]","hgnc":"2978","ensembl":"ENSG00000119772","omim":"602769","loci":["2p23.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":17.0,"area":"Worldwide","status":"Validated","source":"24614070[PMID]_27991732[PMID]_28941052[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_24614070[PMID]_27991732[PMID]_28941052[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-07-29","source":"29900417[PMID]_31066180[PMID]_28941052[PMID]_27991732[PMID]_24614070[PMID]","terms":[{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011407","label":"Proportionate tall stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008947","label":"Floppy infant","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002342","label":"Intellectual disability, moderate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002751","label":"Kyphoscoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001513","label":"Obesity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000739","label":"Anxiety","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001631","label":"Atrial septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002308","label":"Chiari malformation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000280","label":"Coarse facial features","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002376","label":"Developmental regression","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010864","label":"Intellectual disability, severe","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0045025","label":"Narrow palpebral fissure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000311","label":"Round face","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100753","label":"Schizophrenia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001831","label":"Short toe","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000574","label":"Thick eyebrow","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008094","label":"Widely spaced toes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001566","label":"Widely-spaced maxillary central incisors","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000718","label":"Aggressive behavior","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002616","label":"Aortic root aneurysm","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0007302","label":"Bipolar affective disorder","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002002","label":"Deep philtrum","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000303","label":"Mandibular prognathia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001653","label":"Mitral regurgitation","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0012324","label":"Myeloid leukemia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100634","label":"Neuroendocrine neoplasm","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001643","label":"Patent ductus arteriosus","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0003508","label":"Proportionate short stature","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002000","label":"Short columella","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0011688","label":"Supraventricular tachycardia with an accessory connection mediated pathway","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0005180","label":"Tricuspid regurgitation","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001537","label":"Umbilical hernia","frequency":"Very rare (<4-1%)","criteria":null}]}}