{"orpha":1547,"name":"Cryptomicrotia-brachydactyly-excess fingertip arch syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Cryptomicrotia-brachydactyly syndrome","Tonoki-Ohura-Niikawa syndrome"],"definition":"A rare genetic, congenital malformation syndrome characterized by the combination bilateral cryptomicrotia, brachytelomesophalangy with short middle and distal phalanges of digits 2 through 5, hypoplastic toenails and excess fingertip arch patterns. There have been no further descriptions in the literature since 1988.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1547/","orphanet_url":"https://www.orpha.net/en/disease/detail/1547","names":{"fr":{"name":"Syndrome de cryptomicrotie-brachydactylie-anomalies des dermatoglyphes","synonyms":["Syndrome de Tonoki-Ohura-Niikawa","Syndrome de cryptomicrotie-brachydactylie"],"definition":"Ensemble de malformations comprenant une cryptomicrotie bilatérale, une brachy-télo-mésophalangie avec des phalanges intermédiaires et distales courtes au niveau des doigts 2 à 5, une hypoplasie des ongles des orteils et un excès au niveau des arcs dermatoglyphes au bout des doigts. Il n'y a pas eu de description ultérieure du syndrome dans la littérature depuis 1988."},"de":{"name":"Syndrom der Kryptomikrotie mit Brachydaktylie und exzessiven Bogenmuster der Fingerspitzen","synonyms":["Kryptomikrotie-Brachydaktylie-Syndrom","Tonoki-Ohura-Niikawa-Syndrom"],"definition":"Ein seltenes Fehlbildungs-Syndrom mit beidseitiger Kryptomikrotie, Brachytelomelphalangie mit kurzen Mittel- und Endgliedern der Finger II-V, hypoplastischen Zehennägeln und exzessiven Bogenmustern der Fingerspitzen. Seit 1988 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Síndrome de criptomicrotia-braquidactilia-exceso de arco de la yema del dedo","synonyms":["Síndrome de Tonoki-Ohura-Niikawa","Síndrome de criptomicrotia-braquidactilia"],"definition":"Es un síndrome malformativo congénito poco frecuente caracterizado por una combinación de malformaciones que incluyen: criptomicrotia bilateral, braquitelomesofalangia con falanges medias y distales cortas de los dedos 2 al 5, uñas de los pies hipoplásicas y exceso de patrones en arco de la yema del dedo. No ha habido más casos descritos en la literatura desde 1988."},"it":{"name":"Critptomicrotia - brachidattilia - eccesso di disegni ad arco sui polpastrelli","synonyms":["Sindrome criptomicrotia-brachidattilia","Sindrome di Tonoki-Ohura-Niikawa"],"definition":"La sindrome criptomicrotia-brachidattilia-dermatoglifi ad arco sui polpastrelli definisce una combinazione di malformazioni, che comprendono criptomicrotia, brachitelomesofalangia con falangi medie e distali corte delle dita delle mani 2-5, ipoplasia delle unghie dei piedi ed un eccesso di disegni ad arco sui polpastrelli delle dita. È stata osservata in una sola famiglia (madre e figlio). Si ritiene che la sindrome abbia una trasmissione autosomica dominante. Gli ultimi casi pubblicati risalgono al 1988."},"nl":{"name":"Cryptomicrotie - brachydactylie - excessieve vingertopboog-syndroom","synonyms":["Cryptomicrotie - brachydactylie-syndroom","Syndroom van Tonoki-Ohura-Niikawa"],"definition":"Een zeldzaam, genetisch congenitaal malformatiesyndroom, gekenmerkt door de combinatie van bilaterale cryptomicrotie, brachytelomesofalangie met korte middelste en distale falangen van digiti 2 tot 5, hypoplastische teennagels en dermatoglyfen met groot aantal bogen. Sinds 1988 verschenen er geen bijkomende beschrijvingen in de literatuur."},"pt":{"name":"Síndrome de criptomicrotia-braquidactilia-excesso de arcos digitais","synonyms":["Síndrome Tonoki-Ohura-Niikawa"]},"pl":{"name":"Kryptomikrocja - brachydaktylia - dodatkowy łuk koniuszka palca","synonyms":["Zespół kryptomikrocja-brachydaktylia","Zespół Tonoki, Ohura i Niikawa"],"definition":"Rzadki genetyczny zespół wrodzonych wad rozwojowych, charakteryzujący się połączeniem obustronnej kryptomikrotii, brachytelomezofalangii z krótkimi środkowymi i dalszymi paliczkami palców 2-5, hipoplastycznymi paznokciami u stóp i nadmiernie bogatymi wzorami linii pailarnych. Od 1988 roku nie było dalszych opisów w literaturze."},"cs":{"name":"Syndrom zahrnující kryptomikrocii, brachydaktylii a prodloužené konečky prstů","synonyms":["Syndrom zahrnující kryptomikrocii a brachydaktylii","Tonokiho-Ohuraův-Niikawaův syndrom","Tonoki-Ohura-Niikawaův syndrom"]},"uk":{"name":"Синдром криптомікротії-брахідактилії-надлишкової дуги кінчиків пальців","synonyms":["Синдром криптомікротії-брахідактилії","Синдром Тонокі-Охура-Ніікава"],"definition":"A rare genetic, congenital malformation syndrome characterized by the combination bilateral cryptomicrotia, brachytelomesophalangy with short middle and distal phalanges of digits 2 through 5, hypoplastic toenails and excess fingertip arch patterns. There have been no further descriptions in the literature since 1988."},"zh":{"name":"隐性小耳畸形-短指-指尖过度弯曲综合征","synonyms":["隐性小耳畸形-短指综合征"]},"tr":{"name":"Kriptomikrotya-brakidaktili-aşırı parmak ucu ark sendromu","synonyms":["Tonoki-Ohura-Niikawa sendromu","Kriptomikrotia-brakidaktili sendromu"]}},"xrefs":[{"source":"OMIM","code":"123560","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0007409","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536219","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1852454","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"8174","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":330206,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[156]},{"orpha":102285,"name":"Multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[147]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"3400730[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_3400730[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0007477","label":"Abnormal dermatoglyphics","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005872","label":"Brachytelomesophalangy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009882","label":"Short distal phalanx of finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000048","label":"Bifid scrotum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001480","label":"Freckling","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001800","label":"Hypoplastic toenails","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000506","label":"Telecanthus","frequency":"Frequent (79-30%)","criteria":null}]}}