{"orpha":79144,"name":"Isolated congenital onychodysplasia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["COIF","COIF syndrome","Congenital onychodysplasia of the index fingers","Iso-Kikuchi syndrome"],"definition":"A rare isolated nail anomaly characterized by congenital unilateral or bilateral nail dysplasia (including micronychia, polyonychia, anonychia, hemionychrogryphosis, and malalignment) commonly involving the index fingers and/or other fingers or also toes, frequently associated with bony anomalies of the affected digits (such as Y-shaped bifurcation of the distal phalanx, brachymesophalangy, or syndactyly). The condition can be sporadic or familial.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-79144/","orphanet_url":"https://www.orpha.net/en/disease/detail/79144","names":{"fr":{"name":"Onychodysplasie congénitale isolée","synonyms":["Onychodysplasie congénitale des index","Syndrome d'Iso-Kikuchi"],"definition":"Anomalie isolée rare des ongles, caractérisée par une dysplasie unguéale congénitale unilatérale ou bilatérale (y compris micronychie, polyonychie, anonychie, hémi-onychrogryphose et malalignement) touchant généralement les index et/ou d'autres doigts et éventuellement les orteils, fréquemment associée à des anomalies osseuses des doigts affectés (telles que la bifurcation en Y de la phalange distale, la brachymésophalangie ou la syndactylie). La maladie peut être sporadique ou familiale."},"de":{"name":"Onychodysplasie, kongenitale isolierte","synonyms":["COIF","COIF-Syndrom","Iso-Kikuchi-Syndrom","Onychodysplasie des Zeigefingers, kongenitale","Onychodysplasie des Zeigefingers, kongenitale (COIF)"],"definition":"Eine seltene isolierte Nagelanomalie, die durch eine kongenitale ein- oder beidseitige Nageldysplasie (einschließlich Mikronychien, Polyonychien, Anonychien, Hemionychrogryphosen und Fehlstellungen) gekennzeichnet ist und in der Regel die Zeigefinger und/oder andere Finger oder auch Zehen betrifft, häufig in Verbindung mit knöchernen Anomalien der betroffenen Gliedmaßen (z. B. Y-förmige Verzweigung der distalen Phalanx, Brachymesophalangie oder Syndaktylie). Die Erkrankung kann sporadisch oder familiär bedingt sein."},"es":{"name":"Onicodisplasia congénita aislada","synonyms":["COIF","Onicodisplasia congénita de los dedos índices","Síndrome COIF","Síndrome de Iso-Kikuchi"],"definition":"Es una anomalía ungueal aislada poco frecuente caracterizada por displasia uni-o bilateral congénita de la uña (incluyendo microniquia, polioniquia, anoniquia, hemi-onicrogrifosis y mal alineamiento) que afecta habitualmente a los dedos índices y/u otros dedos de la mano o de los pies, frecuentemente asociada con anomalías óseas de los dedos afectados (como bifurcación en Y de la falange distal, braquimesofalangia o sindactilia). La entidad puede ser esporádica o familiar."},"it":{"name":"Onicodisplasia isolata congenita","synonyms":["Onicodisplasia congenita del dito indice","Sindrome COIF","Sindrome di Iso-Kikuchi"],"definition":"Si tratta di un'anomalia isolata rara delle unghie, caratterizzata da displasia congenita mono- o bilaterale (micronichia, polionichia, anonichia, emi-onicogrifosi e disallineamento) che di solito interessa l'indice e/o altre dita delle mani o dei piedi, spesso associata ad anomalie scheletriche delle dita interessate (ad es. biforcazione a forma di Y della falange distale, brachimesofalangia o sindattilia). La malattia può essere sporadica o familiare."},"nl":{"name":"Geïsoleerde congenitale onychodysplasie","synonyms":["COIF","COIF-syndroom","Congenitale onychodysplasie van de wijsvingers","Syndroom van Iso-Kikuchi"],"definition":"Een zeldzame geïsoleerde anomalie van nagel, gekarakteriseerd door congenitale, unilaterale of bilaterale dysplasie van nagels (inclusief micronychie, polyonychie, anonychie, hemi-onychogryfose, en scheefstand), doorgaans met betrokkenheid van wijsvingers en/of andere vingers of ook tenen, en vaak geassocieerd met botanomalieën van aangetaste digiti (zoals Y-vormige bifurcatie van distale falanx, brachymesofalangie, of syndactylie). De aandoening kan sporadisch of familiaal voorkomen."},"pt":{"name":"Onicodisplasia congénita","synonyms":["Onicodisplasia congénita dos dedos indicadores","Síndrome COIF","Síndrome de Iso-Kikuchi"]},"pl":{"name":"Wrodzona dysplazja paznokci","synonyms":["COIF","Wrodzona dysplazja paznokci palców wskazująych","Zespół COIF","Zespół Iso i Kikuchi"]},"cs":{"name":"Vrozená onychodysplázie","synonyms":["COIF","COIF syndrom","Isov-Kukuchiho syndrom","Vrozená onychodysplázie postihující ukazováčky"]},"uk":{"name":"Ізольована вроджена оніходисплазія","synonyms":["COIF","Синдром COIF","Вроджена оніходисплазія вказівних пальців","Синдром Ізо-Кікучі"],"definition":"A rare isolated nail anomaly characterized by congenital unilateral or bilateral nail dysplasia (including micronychia, polyonychia, anonychia, hemionychrogryphosis, and malalignment) commonly involving the index fingers and/or other fingers or also toes, frequently associated with bony anomalies of the affected digits (such as Y-shaped bifurcation of the distal phalanx, brachymesophalangy, or syndactyly). The condition can be sporadic or familial."},"zh":{"name":"孤立型先天性甲发育不良","synonyms":["先天性食指指甲发育异常"]},"tr":{"name":"İzole doğumsal onikodisplazi","synonyms":["COIF","COIF sendromu","Iso-Kikuchi sendromu","İşaret parmaklarının Doğumsal onikodisplazisi"]}},"xrefs":[{"source":"OMIM","code":"605779","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q84.6","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"EC22.0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"521461614"},{"source":"MONDO","code":"0011595","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1274658","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9761","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":79369,"name":"Isolated nail anomaly","classifications":[187]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_26509026[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-01-28","source":"31685224[PMID]_26131880[PMID]_11030770[PMID]","terms":[{"hpo":"HP:0030805","label":"Absent lunula","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010793","label":"Bifid nail","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100798","label":"Fingernail dysplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001816","label":"Thin nail","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100797","label":"Toenail dysplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005918","label":"Abnormal finger phalanx morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001598","label":"Concave nail","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031282","label":"Malalignment of the great toenail","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011313","label":"Narrow nail","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0040036","label":"Onychogryposis of fingernail","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008401","label":"Onychogryposis of toenails","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009951","label":"Partial duplication of the distal phalanx of the 2nd finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030803","label":"Platonychia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001792","label":"Small nail","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001798","label":"Anonychia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012710","label":"Ingrown nail","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012203","label":"Onychomycosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004691","label":"2-3 toe syndactyly","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001385","label":"Hip dysplasia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000202","label":"Orofacial cleft","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0012296","label":"Slender distal phalanx of finger","frequency":"Very rare (<4-1%)","criteria":null}]}}