{"orpha":228390,"name":"Frontonasal dysplasia-alopecia-genital anomalies syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["ALX4-related FNDAG","Craniofrontonasal dysplasia with alopecia and hypogonadism","Frontonasal dysplasia type 2","Frontonasal dysplasia with alopecia and genital abnomality"],"definition":"A rare, genetic, frontonasal dysplasia characterized by coronal craniosynostosis, large skull defect with aplasia of ethmoid and nasal bones, hypertelorism, severely depressed nasal bridge and bifid nasal tip in association with total alopecia and hypogonadism. Intellectual disability is mild to moderate.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-228390/","orphanet_url":"https://www.orpha.net/en/disease/detail/228390","names":{"fr":{"name":"Syndrome de dysplasie frontonasale-alopécie-anomalies génitales","synonyms":["Dysplasie fronto-nasale type 2","FNDAG associée à ALX4","Syndrome de dysplasie cranio-fronto-nasale-alopécie-hypogonadisme"],"definition":"La dysplasie frontonasale avec alopécie et anomalie génitale est une nouvelle dysplasie frontonasale associée à une alopécie et un hypogonadisme."},"de":{"name":"Frontonasale Dysplasie-Alopezie-Genitalanomalien-Syndrom","synonyms":["ALX4-abhängige FNDAG","Fronto-nasale Dysplasie Typ 2","Fronto-nasale Dysplasie mit Alopezie und Genitalfehlbildungen","Kranio-fronto-nasale Dysplasie mit Alopezie und Hypogonadismus"],"definition":"Eine seltene, genetisch bedingte frontonasale Dysplasie, die durch eine koronale Kraniosynostose, einen großen Schädeldefekt mit Aplasie der Siebbein- und Nasenknochen, Hypertelorismus, eine stark abgesenkte Nasenbrücke und eine gespaltene Nasenspitze in Verbindung mit vollständiger Alopezie und Hypogonadismus gekennzeichnet ist. Die Intelligenzminderung ist leicht bis mittelschwer."},"es":{"name":"Síndrome de displasia frontonasal-alopecia-anomalías genitales","synonyms":["Displasia craneofrontonasal con alopecia e hipogonadismo","Displasia frontonasal con alopecia y anomalías genitales","Displasia frontonasal tipo 2","FNDAG asociado a ALX4"],"definition":"Es una displasia frontonasal poco frecuente de origen genético caracterizada por craneosinostosis coronal, grandes defectos en el cráneo con aplasia de los huesos etmoides y nasal, hipertelorismo, puente nasal profundamente deprimido y punta nasal bífida, asociada a alopecia total e hipogonadismo.La discapacidad intelectual varía de leve a moderada."},"it":{"name":"Displasia frontonasale - alopecia - anomalia dei genitali","synonyms":["Displasia cranio-fronto-nasale con alopecia e ipogonadismo","Displasia frontonasale con alopecia e anomalie genitali","FNDAG associata a ALX4"]},"nl":{"name":"Frontonasale dysplasie - alopecie - genitale anomalieën-syndroom","synonyms":["ALX4-gerelateerde FNDAG","Craniofrontonasale dysplasie met alopecie en hypogonadisme","Frontonasale dysplasie met alopecie en genitale afwijking","Frontonasale dysplasie type 2"],"definition":"Een zeldzame, genetische frontonasale dysplasie, gekenmerkt door coronale craniosynostose, ernstig defect van schedel met aplasie van etmoïd en neusbeenderen, hypertelorisme, ernstig ingezakte neusbrug en bifide neuspunt in associatie met totale alopecie en hypogonadisme. Intellectuele achterstand is mild tot matig."},"pt":{"name":"Síndrome de displasia frontonasal-alopecia-anomalias genitais","synonyms":["FNDAG ALX4-relacionada","Displasia craniofrontonasal com alopecia e hipogonadismo","Displasia frontonasal e anomalia genital","Displasia frontonasal tipo 2"],"definition":"A displasia frontonasal com alopecia e anomalia genital é um novo fenótipo de displasia frontonasal associada a alopecia total e hipogonadismo."},"pl":{"name":"Dysplazja czołowo-nosowa z łysieniem i wadą narządów płciowych","synonyms":["Dysplazja czaszkowo-czołowo-nosowa z łysieniem i hipogonadyzmem","Dysplazja czołowo-nosowa z łysieniem i nieprawidłowością narządów płciowych","FNDAG ziązane z ALX4"]},"cs":{"name":"Frontonazální dysplázie s alopecií a anomálií genitálu","synonyms":["ALX4-vázaná FNDAG","Kraniofrontonazální dysplázie s alopecií a hypogonadismem","Frontonazální dysplázie s alopecií a abnormalitou genitálu"]},"uk":{"name":"Синдром лобно-носової дисплазії-алопеції-генітальних аномалій","synonyms":["FNDAG, повязані з ALX4","Краніофронтоносальна дисплазія з алопецією та гіпогонадизмом","Фронтоназальна дисплазія 2 типу","Фронтоназальна дисплазія з алопецією та аномалією статевих органів"],"definition":"A rare, genetic, frontonasal dysplasia characterized by coronal craniosynostosis, large skull defect with aplasia of ethmoid and nasal bones, hypertelorism, severely depressed nasal bridge and bifid nasal tip in association with total alopecia and hypogonadism. Intellectual disability is mild to moderate."},"zh":{"name":"额鼻发育不良-脱发-生殖器异常综合征","synonyms":["额鼻发育不良伴脱发和性腺功能减退症"],"definition":"额鼻发育不良伴秃发和生殖器畸形是额鼻发育不良伴完全脱发和性腺功能减退的一种新表型。"},"tr":{"name":"Frontonazal displazi-alopesi-genital anomaliler sendromu","synonyms":["ALX4-ilişkili FNDAG","Frontonazal displazi tip 2","Alopesi ve hipogonadizm ile seyreden kraniyofrontonazal displazi","Alopesi ve genital anormallik ile seyreden frontonazal displazi"]}},"xrefs":[{"source":"OMIM","code":"613451","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0013268","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4510728","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":79364,"name":"Alopecia","classifications":[187]},{"orpha":250,"name":"Frontonasal dysplasia","classifications":[147,156,199]},{"orpha":481771,"name":"Genetic alopecia","classifications":[156]},{"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":98683,"name":"Syndromic disorder with strabismus","classifications":[189]},{"orpha":522520,"name":"Syndromic genetic disorder with strabismus","classifications":[156]}],"children":[],"genes":[{"symbol":"ALX4","name":"ALX homeobox 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23401352[PMID]","hgnc":"450","ensembl":"ENSG00000052850","omim":"605420","loci":["11p11.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"24668755[PMID]"},{"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":"2016-06-01","source":"19692347[PMID]","terms":[{"hpo":"HP:0001596","label":"Alopecia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011803","label":"Bifid nose","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000248","label":"Brachycephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000289","label":"Broad philtrum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004440","label":"Coronal craniosynostosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002084","label":"Encephalocele","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000135","label":"Hypogonadism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002342","label":"Intellectual disability, moderate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001362","label":"Skull defect","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000506","label":"Telecanthus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000430","label":"Underdeveloped nasal alae","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000582","label":"Upslanted palpebral fissure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000164","label":"Abnormality of the dentition","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002335","label":"Agenesis of cerebellar vermis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001274","label":"Agenesis of corpus callosum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000698","label":"Conical tooth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002213","label":"Fine hair","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000568","label":"Microphthalmia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001562","label":"Oligohydramnios","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000046","label":"Small scrotum","frequency":"Frequent (79-30%)","criteria":null}]}}