{"orpha":488437,"name":"SIX2-related frontonasal dysplasia","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["SIX2-related FND"],"definition":"A rare frontonasal dysplasia characterized by a craniofacial phenotype comprising frontal bossing with high anterior hairline, ptosis, hypertelorism, epicanthus inversus, flat nasal bridge, and broad nasal tip. Large anterior fontanelle, sagittal synostosis, and cranial base anomalies have also been described.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-488437/","orphanet_url":"https://www.orpha.net/en/disease/detail/488437","names":{"fr":{"name":"Dysplasie frontonasale associée à SIX2","definition":"Dysplasie frontonasale rare caractérisée par un phénotype craniofacial à type de front proéminent avec une ligne capilaire frontale haute, un ptosis, un hypertélorisme, un épicanthus inversus, un pont nasal plat et une pointe nasale large. Une fontanelle antérieure large, une synostose sagittale et des anomalies de la base du crâne ont également été décrites."},"de":{"name":"SIX2-assoziierte frontonasale Dysplasie","synonyms":["SIX2-assoziierte FND"],"definition":"Eine seltene frontonasale Dysplasie, die durch einen kraniofazialen Phänotyp gekennzeichnet ist, der einen Balkonstirn mit hoher vorderer Haarlinie, Ptosis, Hypertelorismus, Epikanthus inversus, flachem Nasenrücken und breiter Nasenspitze umfasst. Eine große vordere Fontanelle, Sagittalsynostose und Anomalien der Schädelbasis wurden ebenfalls beschrieben."},"es":{"name":"Displasia frontonasal asociada a SIX2","synonyms":["DFN asociada a SIX2"],"definition":"Es una displasia frontonasal poco frecuente caracterizada por un fenotipo craneofacial que comprende frente prominente con línea anterior de implantación del cabello alta, ptosis, hipertelorismo, epicanto inverso, puente nasal plano y punta nasal ancha. También se ha descrito un agrandamiento de la fontanela anterior, sinostosis sagital y anomalías de la base del cráneo."},"it":{"name":"Displasia frontonasale correlata a SIX2","definition":"Si tratta di una displasia frontonasale rara, caratterizzata da dismorfismi craniofacciali che comprendono la fronte bombata con attaccatura anteriore dei capelli alta, ptosi, ipertelorismo, epicanto inverso, sella nasale piatta e punta del naso larga. I pazienti possono presentare anche fontanella anteriore ampia, sinostosi sagittale e anomalie della base del cranio."},"nl":{"name":"SIX2-gerelateerde frontonasale dysplasie","synonyms":["SIX2-gerelateerde FND"],"definition":"Een zeldzame frontonasale dysplasie, gekarakteriseerd door een craniofaciaal fenotype bestaande uit boller voorhoofd met hoge voorste haarlijn, ptosis, hypertelorisme, epicanthus inversus, platte neusbrug, en brede neuspunt. Grote voorste fontanel, synostose van sutura sagittalis, en anomalieën van schedelbasis werden ook reeds beschreven."},"pt":{"name":"Displasia fronto-nasal SIX2-relacionada"},"pl":{"name":"Dysplazja czołowo-nosowa związana z SIX2","synonyms":["SIX2-related FND"]},"cs":{"name":"SIX2-vázaná frontonazální dysplázie","synonyms":["SIX2-vázaná FND"]},"uk":{"name":"Фронтоназальна дисплазія, повязана з SIX2","synonyms":["FND, повязані з SIX2"],"definition":"A rare frontonasal dysplasia characterized by a craniofacial phenotype comprising frontal bossing with high anterior hairline, ptosis, hypertelorism, epicanthus inversus, flat nasal bridge, and broad nasal tip. Large anterior fontanelle, sagittal synostosis, and cranial base anomalies have also been described."},"zh":{"name":"SIX2相关鼻发育不良","synonyms":["SIX2-related FND"]},"tr":{"name":"SIX2-ilişkili frontonazal displazi","synonyms":["SIX2-ilişkili FND"]}},"xrefs":[{"source":"ICD-10","code":"Q75.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0044628","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5567484","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":250,"name":"Frontonasal dysplasia","classifications":[147,156,199]}],"children":[],"genes":[{"symbol":"SIX2","name":"SIX homeobox 2","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"26581443[PMID]_27920634[PMID]","hgnc":"10888","ensembl":"ENSG00000170577","omim":"604994","loci":["2p21"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":1.0,"area":"Worldwide","status":"Validated","source":"26581443[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_26581443[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-09-03","source":"26581443[PMID]_10773454[PMID]_7720577[PMID]","terms":[{"hpo":"HP:0005453","label":"Absent/hypoplastic paranasal sinuses","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009119","label":"Aplasia/Hypoplasia of the frontal sinuses","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000455","label":"Broad nasal tip","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000537","label":"Epicanthus inversus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000348","label":"High forehead","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002693","label":"Abnormality of the skull base","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011330","label":"Metopic synostosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005494","label":"Premature posterior fontanelle closure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010291","label":"Prominent palatine ridges","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:0000260","label":"Wide anterior fontanel","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000077","label":"Abnormality of the kidney","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0000820","label":"Abnormality of the thyroid gland","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Excluded (0%)","criteria":null}]}}