{"orpha":391474,"name":"Frontorhiny","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["ALX3-related frontonasal dysplasia","Frontonasal dysplasia type 1","Isolated median cleft face syndrome"],"definition":"A rare frontonasal dysplasia characterized by hypertelorism, wide nasal bridge, broad columella, widened philtrum, widely separated narrow nares, poor development of nasal tip, midline notch of the upper alveolus, columella base swellings and a low hairline. Additional features reported in some include upper eyelid ptosis and midline dermoid cysts of craniofacial structures and philtral pits or rugose folding behind the ears.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-391474/","orphanet_url":"https://www.orpha.net/en/disease/detail/391474","names":{"fr":{"name":"Frontorhinie","synonyms":["Dysplasie fronto-nasale liée à ALX3","Dysplasie fronto-nasale type 1","Syndrome de la fente faciale médiane, forme isolée"],"definition":"Dysplasie frontonasale rare caractérisée par un hypertélorisme, un pont nasal large, une columelle large, un philtrum élargi, des narines étroites avec une large séparation, un développement insuffisant de la pointe du nez, une encoche médiane de l'alvéole supérieure, des renflements à la base de la columelle et une ligne d'implantation des cheveux basse. D'autres caractéristiques ont été rapportées chez certains patients, notamment un ptosis et des kystes dermoïdes sur la ligne médiane des structures craniofaciales, ainsi que des fosses dans le philtrum ou des plis rugueux derrière les oreilles."},"de":{"name":"Frontorhinie","synonyms":["ALX-3-abhängige fronto-nasale Dysplasie","ALX-3-abhängige frontonasale Dysplasie","Dysplasie, fronto-nasale, Typ 1","Dysplasie, frontonasale, Typ 1","Syndrom der isolierten medianen Gesichtsspalte"],"definition":"Eine seltene frontonasale Dysplasie, die durch Hypertelorismus, breite Nasenwurzel, weite Columella, verbreitertes Philtrum, weit auseinanderstehende schmale Nasenlöcher, unterentwickelte Nasenspitze, Mittellinienkerbe der oberen Alveole, Schwellungen an der Columellabasis und einen niedrigen Haaransatz gekennzeichnet ist. Zusätzliche Merkmale, die bei einigen Patienten berichtet wurden, sind Ptosis der oberen Augenlider und Mittellinien-Dermoidzysten der kraniofazialen Strukturen sowie Philtralgruben oder faltige Haut hinter den Ohren."},"es":{"name":"Frontorrinia","synonyms":["Displasia frontonasal asociada a ALX-3","Displasia frontonasal tipo 1","Síndrome aislado de fisura media del rostro"],"definition":"Es una displasia frontonasal poco frecuente caracterizada por hipertelorismo, puente nasal ancho, columela ancha, filtrum amplio, narinas estrechas y ampliamente separadas, desarrollo escaso de la punta nasal, hendidura en la línea media del alveolo superior, inflamación de la base de la columela y línea de implantación del cabello baja. Otras características descritas en algunos pacientes incluyen ptosis del párpado superior, quistes dermoides en la línea media de estructuras craneofaciales y fositas en el filtrum o plegamiento rugoso detrás de las orejas."},"it":{"name":"Frontorinia","synonyms":["Displasia frontonasale ALX-3-correlata","Sindrome da schisi mediana isolata"],"definition":"La frontorinia è una forma sindromica nosologicamente distinta di malformazione fronto-nasale, caratterizzata da ipertelorismo, radice del naso larga, ampia columella, filtro allargato, narici strette e distanziate, punta del naso poco sviluppata, alveolo superiore con cresta mediana, gonfiore della base della columella e bassa attaccatura dei capelli. In alcuni casi sono presenti la ptosi delle palpebre superiori, le cisti dermoidi sulla linea mediana delle strutture craniofacciali e le fossette sul filtro o le pliche rugose dietro le orecchie. È stata ipotizzata una trasmissione autosomica recessiva."},"nl":{"name":"Frontorhinie","synonyms":["ALX-3-gerelateerde frontonasale dysplasie","Frontonasale dysplasie type 1","Geïsoleerde mediane aangezichtsspleet-syndroom"],"definition":"Een zeldzame frontonasale dysplasie, gekenmerkt door hypertelorisme, brede neusbrug, breed columella, breed filtrum, ver uit elkaar staande smalle neusgaten, ondermaats ontwikkelde neuspunt, inkeping op de middellijn van bovenste alveolair bot, zwellingen aan de basis van columella, en een lage haarlijn. Bijkomende kenmerken die bij sommige patiënten werden gerapporteerd, zijn onder meer ptosis van bovenste oogleden, dermoïde cysten op de middellijn van craniofaciale structuren, en putjes in filtrum of gerimpelde plooien achter de oren."},"pt":{"name":"Displasia frontonasal isolada"},"pl":{"name":"Frontorinia (dysplazja czołowo-nosowa)","synonyms":["Dysplazja czołowo-nosowa zależna od ALX3","Izolowany zespół rozszczepu pośrodkowego"],"definition":"Rzadka dysplazja czołowo-nosowa charakteryzująca się hiperteloryzmem, szeroką nasadą nosa, szeroką kolumienką, poszerzoną rynienką, szeroko oddzielonymi wąskimi nozdrzami, słabym rozwojem czubka nosa, wcięciem w linii pośrodkowej górnego wyrostka zębodołowego, obrzękiem podstawy kolumienki oraz nisko schodzącą linią włosów. Dodatkowe objawy zgłaszane u niektórych chorych obejmują opadanie powiek górnych, torbiele skórzaste struktur czaszkowo-twarzowych w linii pośrodkowej oraz dołki w rynience podnosowej lub fałdowanie za uszami."},"cs":{"name":"Frontorhinie","synonyms":["ALX3-vázaná frontonazální dysplázie","Syndrom izolovaného mediánního rozštěpu"]},"uk":{"name":"Фронторинія","synonyms":["Фронтоназальна дисплазія, повязана з ALX3","Фронтоназальна дисплазія типу 1","Синдром ізольованого серединного розщеплення обличчя"],"definition":"A rare frontonasal dysplasia characterized by hypertelorism, wide nasal bridge, broad columella, widened philtrum, widely separated narrow nares, poor development of nasal tip, midline notch of the upper alveolus, columella base swellings and a low hairline. Additional features reported in some include upper eyelid ptosis and midline dermoid cysts of craniofacial structures and philtral pits or rugose folding behind the ears."},"zh":{"name":"额鼻部发育不良1型","synonyms":["孤立性面部正中裂综合征"],"definition":"额鼻畸形是一种独特的额鼻畸形综合征，主要表现为眼距过宽，鼻梁宽，穹窿柱较宽，人中较宽，鼻孔较窄，鼻尖发育不良，上牙槽中线切迹，鼻小柱基底部肿胀，发际线较低。其他已被报道的特征包括上眼睑下垂和头面部结构的中线皮样囊肿，以及人中凹或耳后皱褶。本病被认为是一种常染色体隐性遗传。"},"tr":{"name":"Frontorini","synonyms":["Frontonazal displazi tip 1","ALX3-ilişkili frontonazal displazi","İzole medyan yarık yüz sendromu"]}},"xrefs":[{"source":"OMIM","code":"136760","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q75.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD25.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0007636","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5574965","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":250,"name":"Frontonasal dysplasia","classifications":[147,156,199]},{"orpha":414726,"name":"Genetic facial cleft","classifications":[156]},{"orpha":141234,"name":"Median facial cleft","classifications":[147,209]}],"children":[],"genes":[{"symbol":"ALX3","name":"ALX homeobox 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"19409524[PMID]","hgnc":"449","ensembl":"ENSG00000156150","omim":"606014","loci":["1p13.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-08-22","source":"19409524[PMID]_9689987[PMID]_17955515[PMID]_5444583[PMID]","terms":[{"hpo":"HP:0007370","label":"Aplasia/Hypoplasia of the corpus callosum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011817","label":"Basal encephalocele","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010297","label":"Bifid tongue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100490","label":"Camptodactyly of finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008591","label":"Congenital conductive hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004423","label":"Cranium bifidum occultum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025247","label":"Dermoid cyst","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002084","label":"Encephalocele","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0040019","label":"Finger clinodactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000327","label":"Hypoplasia of the maxilla","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002738","label":"Hypoplastic frontal sinuses","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000612","label":"Iris coloboma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002938","label":"Lumbar hyperlordosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000568","label":"Microphthalmia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004112","label":"Midline nasal groove","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006931","label":"Pericallosal lipoma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000384","label":"Preauricular skin tag","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000349","label":"Widow's peak","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000873","label":"Diabetes insipidus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040075","label":"Hypopituitarism","frequency":"Occasional (29-5%)","criteria":null}]}}