{"orpha":1780,"name":"Thakker-Donnai syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":["Dysmorphism-multiple structural anomalies syndrome"],"definition":"A rare, genetic, lethal, multiple congenital anomalies/dysmorphic syndrome characterized by facial dysmorphism (including long, downward slanting palpebral fissures, hypertelorism, posteriorly rotated ears, broad nasal bridge, short nose with a bulbous tip and anteverted nares, downturned corners of the mouth) as well as vertebral (occult spina bifida, hemivertebrae), brain (ventricular dilatation, agenesis of corpus callosum), cardiac (tetralogy of Fallot, ventricular septal defect) and gastrointestinal (short esophagus with intrathoracic stomach, small intestine, spleen and pancreas, anal atresia) malformations. There have been no further descriptions in the literature since 1991.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1780/","orphanet_url":"https://www.orpha.net/en/disease/detail/1780","names":{"fr":{"name":"Syndrome de Thakker-Donnai","definition":"Anomalies congénitales multiples/syndrome dysmorphique létal rare d'origine génétique, caractérisé par une dysmorphie faciale (longues fentes palpébrales inclinées vers le bas, hypertélorisme, oreilles orientées vers l'arrière, pont nasal large, petit nez avec pointe bulbeuse et narines antéversées, commissures des lèvres inclinées vers le bas), ainsi que par des malformations vertébrales (spina bifida occulte, hémivertèbres), cérébrales (dilatation ventriculaire, agénésie du corps calleux), cardiaques (tétralogie de Fallot, communication interventriculaire) et gastro-intestinales (oesophage court avec estomac, intestin grêle, rate et pancréas intrathoraciques, atrésie anale). Aucun cas n'a été décrit dans la littérature depuis 1991."},"de":{"name":"Thakker-Donnai-Syndrom","synonyms":["Dysmorphien-multiple strukturelle Anomalien-Syndrom"]},"es":{"name":"Síndrome de Thakker-Donnai","synonyms":["Síndrome de dismorfia-anomalías estructurales múltiples"],"definition":"El síndrome de Thakker-Donnai es un síndrome dismórfico por múltiples anomalías congénitas, letal, genético y poco frecuente, caracterizado por dismorfia facial (que incluye fisuras palpebrales largas e inclinadas hacia abajo, hipertelorismo, orejas rotadas posteriormente, puente nasal ancho, nariz corta con punta bulbosa y narinas antevertidas y comisuras de la boca inclinadas hacia abajo), así como diversas malformaciones: vertebrales (espina bífida oculta, hemivértebras), cerebrales (dilatación ventricular, agenesia del cuerpo calloso), cardíacas (tetralogía de Fallot, comunicación interventricular) y gastrointestinales (esófago corto con estómago intratorácico, intestino, bazo y páncreas pequeños, atresia anal). Desde 1991 no se han descrito más casos en la literatura."},"it":{"name":"Sindrome di Thakker-Donnai","synonyms":["Sindrome di Thakker-Donnai"],"definition":"La sindrome di Thakker-Donnai è una malattia genetica rara letale da anomalie/dismorfismi congeniti multipli, caratterizzata da dismorfismi facciali (rime palpebrali lunghe oblique verso il basso, ipertelorismo, orecchie ruotate posteriormente, sella nasale ampia, naso corto con punta globosa e narici anteverse, angoli della bocca rivolti verso il basso) e malformazioni vertebrali (spina bifida occulta, emivertebre), cerebrali (dilatazione dei ventricoli, agenesia del corpo calloso), cardiache (tetralogia di Fallot, difetto del setto interventricolare) e gastrointestinali (esofago corto con dislocazione intratoracica dello stomaco, dell'intestino tenue, della milza e del pancreas e atresia anale). Non sono stati descritti nuovi casi dopo il 1991."},"nl":{"name":"Syndroom van Thakker-Donnai","synonyms":["Dysmorfie - meervoudige structurele anomalieën-syndroom"],"definition":"Syndroom van Thakker-Donnai is een zeldzaam, genetisch, letaal meervoudige congenitale anomalieën/dysmorfie-syndroom dat gekarakteriseerd wordt door faciale dysmorfie (met onder meer lange en schuin naar beneden hellende ooglidspleten, hypertelorisme, naar achteren gedraaide oren, brede neusbrug, korte neus met een bolle punt en anteversie van de neusgaten, naar beneden gekeerde mondhoeken), alsook malformaties van de wervelkolom (spina bifida occulta, hemivertebrae), de hersenen (ventrikeldilatatie, agenesie van het corpus callosum), het hart (tetralogie van Fallot, ventrikelseptumdefect) en het gastro-intestinale stelsel (korte oesofagus met intrathoracale maag, kleine darm, milt en pancreas, anusatresie). Sinds 1991 zijn er geen verdere beschrijvingen in de literatuur."},"pt":{"name":"Síndrome Thakker-Donnai","synonyms":["Dismorfias-anomalias múltiplas estruturais"]},"pl":{"name":"Dysmorfizm- wielorakie wady strukturalne","synonyms":["Zespół Thakkera i Donnai"]},"cs":{"name":"Thakkerův-Donnaiové syndrom","synonyms":["Syndrom zahrnující dysmorfismus a mnohočetné strukturální anomálie","Thakker-Donnaiové syndrom"]},"uk":{"name":"Синдром Таккера-Доннаї","synonyms":["Синдром дисморфізму та множинних структурних аномалій"],"definition":"A rare, genetic, lethal, multiple congenital anomalies/dysmorphic syndrome characterized by facial dysmorphism (including long, downward slanting palpebral fissures, hypertelorism, posteriorly rotated ears, broad nasal bridge, short nose with a bulbous tip and anteverted nares, downturned corners of the mouth) as well as vertebral (occult spina bifida, hemivertebrae), brain (ventricular dilatation, agenesis of corpus callosum), cardiac (tetralogy of Fallot, ventricular septal defect) and gastrointestinal (short esophagus with intrathoracic stomach, small intestine, spleen and pancreas, anal atresia) malformations. There have been no further descriptions in the literature since 1991."},"zh":{"name":"Thakker-Donnai综合征","synonyms":["畸形-多发性结构畸形综合征"]},"tr":{"name":"Thakker-Donnai sendromu","synonyms":["Dismorfizm-çoklu yapısal anomaliler sendromu"]}},"xrefs":[{"source":"OMIM","code":"227255","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0009202","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536503","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931219","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5158","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":471383,"name":"Genetic lethal multiple congenital anomalies/dysmorphic syndrome","classifications":[156]},{"orpha":459787,"name":"Lethal multiple congenital anomalies/dysmorphic syndrome","classifications":[147]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"1956065[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_1956065[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000414","label":"Bulbous nose","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004602","label":"Cervical C2/C3 vertebral fusion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002714","label":"Downturned corners of mouth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002937","label":"Hemivertebrae","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000637","label":"Long palpebral fissure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000160","label":"Narrow mouth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000582","label":"Upslanted palpebral fissure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000465","label":"Webbed neck","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001274","label":"Agenesis of corpus callosum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002023","label":"Anal atresia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001334","label":"Communicating hydrocephalus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000776","label":"Congenital diaphragmatic hernia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000126","label":"Hydronephrosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000400","label":"Macrotia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000143","label":"Rectovaginal fistula","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001636","label":"Tetralogy of Fallot","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002575","label":"Tracheoesophageal fistula","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001669","label":"Transposition of the great arteries","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Frequent (79-30%)","criteria":null}]}}