{"orpha":1520,"name":"Craniofrontonasal dysplasia","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["CFND","CFNS","Craniofrontonasal syndrome"],"definition":"A rare X-linked malformation syndrome characterized by craniofacial abnormalities such as uni- or bicoronal synostosis, hypertelorism and a bifid nose, grooved or split nails, frizzy hair, abnormalities of the shoulder girdle, hands and feet.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1520/","orphanet_url":"https://www.orpha.net/en/disease/detail/1520","names":{"fr":{"name":"Dysplasie cranio-fronto-nasale","synonyms":["CFND","CFNS","DCFN","SCFN","Syndrome cranio-fronto-nasal"],"definition":"Syndrome malformatif rare lié à l'X, caractérisé par des anomalies cranio-faciales telles qu'une synostose unicoronale ou bicoronale, un hypertélorisme et un nez bifide, des ongles striés ou fendus, des cheveux crépus, des malformations de la ceinture scapulaire, des mains et des pieds."},"de":{"name":"Dysplasie, kranio-fronto-nasale","definition":"Ein seltenes X-chromosomales Fehlbildungssyndrom, das durch kraniofaziale Anomalien wie uni- oder bikoronale Synostose, Hypertelorismus und eine bifide Nase, gefurchte oder gespaltene Nägel, krauses Haar, Anomalien des Schultergürtels, der Hände und Füße gekennzeichnet ist."},"es":{"name":"Displasia craneofrontonasal","synonyms":["CFND","CFNS","Síndrome craneofrontonasal"],"definition":"Es un síndrome malformativo poco frecuente ligado al cromosoma X caracterizado por anomalías craneofaciales como sinostosis uni- o bicoronal, hipertelorismo y nariz bífida, uñas estriadas o partidas, cabello encrespado, y anomalías de la cintura escapular, de las manos y de los pies."},"it":{"name":"Displasia cranio-fronto-nasale","synonyms":["CFND","CFNS","Sindrome cranio-fronto-nasale"],"definition":"La displasia cranio-fronto-nasale è una sindrome malformativa legata all'X, caratterizzata da asimmetria del volto (in particolare della regione orbitale), asimmetria del corpo, difetti della linea mediana (ipertelorismo, fronte bombata, punta del naso ampia e scanalata o bifida, labioschisi e/o palatoschisi, palato ogivale), anomalie scheletriche (pseudoartrosi della clavicola, craniosinostosi coronale, anomalie delle dita e degli arti, come la sindattilia, la clinodattilia del quinto dito e i pollici larghi) e displasia ectodermica (anomalie dei denti, unghie scanalate, capelli ispidi). A differenza della maggior parte delle malattie legate all'X, le femmine sono colpite in maniera molto più grave mentre i maschi sono asintomatici o presentano un quadro clinico lieve, spesso caratterizzato solo da ipertelorismo."},"nl":{"name":"Craniofrontonasale dysplasie","synonyms":["CFND","CFNS","Craniofrontonasaal syndroom"],"definition":"Een zeldzaam X-gebonden malformatiesyndroom, gekenmerkt door craniofaciale afwijkingen zoals uni- of bicoronale synostose, hypertelorisme en bifide neus, gegroefde of gespleten nagels, kroezig haar, en afwijkingen van de schoudergordel, handen en voeten."},"pt":{"name":"Displasia craniofrontonasal","definition":"Síndrome rara de malformação ligada ao cromossoma X, caracterizada por anomalias craniofaciais, como sinostose uni ou bicoronal, hipertelorismo e nariz bífido, unhas sulcadas ou rachadas, cabelos crespos, anormalidades na cintura escapular, mãos e pés."},"pl":{"name":"Dysplazja czaszkowo-czołowo-nosowa","synonyms":["CFND","CFNS","Zespół czaszkowo-czołowo-nosowy"]},"cs":{"name":"Kraniofrontonazální dysplázie","synonyms":["CFND","CFNS","Kraniofrontonazální syndrom"]},"uk":{"name":"Краніофронтоназальна дисплазія","synonyms":["CFND","CFNS","Краніофронтоназальний синдром"],"definition":"A rare X-linked malformation syndrome characterized by craniofacial abnormalities such as uni- or bicoronal synostosis, hypertelorism and a bifid nose, grooved or split nails, frizzy hair, abnormalities of the shoulder girdle, hands and feet."},"zh":{"name":"颅额鼻发育不良","synonyms":["颅额鼻综合征"]},"tr":{"name":"Kraniyofrontonasal displazi","synonyms":["CFND","CFNS","Kraniyofrontonazal sendrom"]}},"xrefs":[{"source":"OMIM","code":"304110","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD25.3","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"7530653"},{"source":"MONDO","code":"0010570","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536456","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0220767","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1578","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":364574,"name":"Acrofacial dysostosis","classifications":[147,156,199]},{"orpha":250,"name":"Frontonasal dysplasia","classifications":[147,156,199]},{"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":139393,"name":"Syndromic craniosynostosis","classifications":[147,156,199]}],"children":[],"genes":[{"symbol":"EFNB1","name":"ephrin B1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"15124102[PMID]_15166289[PMID]_15959873[PMID]","hgnc":"3226","ensembl":"ENSG00000090776","omim":"300035","loci":["Xq13.1"]}],"genes_via_subtypes":[],"inheritance":["X-linked dominant"],"onset":["Antenatal","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":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000248","label":"Brachycephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001363","label":"Craniosynostosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000457","label":"Depressed nasal ridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004122","label":"Midline defect of the nose","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008402","label":"Ridged fingernail","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010719","label":"Abnormality of hair texture","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000889","label":"Abnormality of the clavicle","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000164","label":"Abnormality of the dentition","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010059","label":"Broad hallux phalanx","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100490","label":"Camptodactyly of finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006585","label":"Congenital pseudoarthrosis of the clavicle","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200021","label":"Down-sloping shoulders","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000324","label":"Facial asymmetry","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006101","label":"Finger syndactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001161","label":"Hand polydactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002162","label":"Low posterior hairline","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000202","label":"Orofacial cleft","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001357","label":"Plagiocephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001852","label":"Sandal gap","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000912","label":"Sprengel anomaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000474","label":"Thickened nuchal skin fold","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000349","label":"Widow's peak","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002224","label":"Woolly hair","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006709","label":"Aplasia/Hypoplasia of the nipples","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000776","label":"Congenital diaphragmatic hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002079","label":"Hypoplasia of the corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000047","label":"Hypospadias","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000767","label":"Pectus excavatum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000049","label":"Shawl scrotum","frequency":"Occasional (29-5%)","criteria":null}]}}