{"orpha":3082,"name":"Intellectual disability-polydactyly-uncombable hair syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Kozlowski-Krajewska syndrome"],"definition":"Intellectual disability-polydactyly-uncombable hair syndrome is a multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, postaxial polydactyly, phalangeal hypoplasia, 2-3 toe syndactyly, uncombable hair and facial dysmorphism (including frontal bossing, hypotelorism, narrow palpebral fissures, nasal bridge and lips, prominent nasal root, large abnormal ears with prominent antihelix, poorly folded helix, underdeveloped lobule and antitragus, and micrognathia evolving into prognatism). Cryptorchidism, conductive hearing loss and progressive thoracic kyphosis were also reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3082/","orphanet_url":"https://www.orpha.net/en/disease/detail/3082","names":{"fr":{"name":"Syndrome de déficience intellectuelle-polydactylie-cheveux incoiffables","synonyms":["Syndrome de Kozlowski-Krajewska"],"definition":"Un syndrome dysmorphique/d'anomalies congénitales multiples caractérisé par un déficit intellectuel, une polydactylie post-axiale, une hypoplasie phalangienne, une syndactylie affectant les orteils 2-3, des cheveux incoiffables et une dysmorphie faciale (incluant une bosse frontale, un hypotélorisme, des fentes palpébrales, des lèvres et un pont nasal étroits, une racine nasale proéminente, de larges oreilles anormales avec un anti-hélix proéminent, un hélix peu plié, un lobule et un antitragus sous-développés, et une micrognathie évoluant vers un prognathisme). Une cryporchidie, une perte auditive de conduction et une cyphose thoracique progressive ont aussi été rapportées."},"de":{"name":"Intelligenzminderung-Polydaktylie-unkämmbare Haare-Syndrom","synonyms":["Kozlowski-Krajewska-Syndrom"],"definition":"Ein kongenitales Dysmorphie-Syndrom mit multiplen Anomalien, das durch Intelligenzminderung, postaxiale Polydaktylie, Phalangealhypoplasie, Zehensyndaktylie 2-3 charakteristische Gesichtsmerkmale und unkämmbares Haar gekennzeichnet ist. Die Gesichtsdysmorphie umfasst eine prominente Stirn, Hypotelorismus, schmale Lidspalten, Nasenrücken und Lippen, prominente Nasenwurzel, Ohranomalien (große Ohren mit prominenter Antihelix, ungefalteter Helix, unterentwickeltem Ohrläppchen und Antitragus) und Mikrognathie, die sich zu Prognatismus entwickelt. Kryptorchismus, Schallleitungsschwerhörigkeit und progressive Thoraxkyphose sind ebenfalls assoziiert."},"es":{"name":"Síndrome de discapacidad intelectual-polidactilia-cabellos impeinables","synonyms":["Síndrome de Kozlowski-Krajewska"],"definition":"El síndrome de discapacidad intelectual-polidactilia-cabellos impeinables es un síndrome dismórfico con anomalías congénitas múltiples, caracterizado por discapacidad intelectual, polidactilia postaxial, falanges hipoplásicas, sindactilia del 2º-3er dedo del pie, pelo del cuero cabelludo impeinable, y dismorfia facial (incluyendo prominencia frontal, hipotelorismo, fisuras palpebrales estrechas, puente nasal y labios delgados, raíz nasal prominente, orejas grandes y anómalas con antihelix prominente, hélix mal plegado, lóbulo y antitrago escasamente desarrollados y micrognatia que evoluciona hacia el prognatismo). También se ha notificado criptorquidia, pérdida auditiva conductiva y cifosis torácica progresiva."},"it":{"name":"Sindrome disabilità intellettiva-polidattilia-capelli impettinabili","synonyms":["Sindrome Kozlowski-Krajewska"],"definition":"La sindrome che associa disabilità intellettiva, polidattilia e capelli impettinabili è una malattia da difetti/dismorfismi congeniti multipli, caratterizzata da disabilità intellettiva, polidattilia postassiale, ipoplasia delle falangi, sindattilia del secondo e terzo dito del piede, capelli impettinabili e dismorfismi facciali (fronte bombata, ipotelorismo, rime palpebrali strette, sella nasale e labbra strette, radice del naso prominente, orecchie larghe con antielice prominente, limitata plicatura dell'elice, lobo e antitrago iposviluppati e micrognazia che evolve nel prognatismo). Possono associarsi il criptorchidismo, la sordità di conduzione e la cifosi toracica progressiva."},"nl":{"name":"Intellectuele achterstand - polydactylie - onkambaar haar-syndroom","synonyms":["Syndroom van Kozlowski-Krajewska"],"definition":"Intellectuele achterstand - polydactylie - onkambaar haar-syndroom is een syndroom met meervoudige congenitale anomalieën/dysmorfie en wordt gekarakteriseerd door intellectuele achterstand, postaxiale polydactylie, falangeale hypoplasie, syndactylie tussen de 2de en 3de teen, onkambaar haar en faciale dysmorfie (waaronder een boller voorhoofd, hypotelorisme, smalle ooglidspleten, neusbrug en lippen, uitgesproken neuswortel, grote abnormale oren met uitgesproken antihelix, slecht gevouwen helix, onderontwikkelde oorlel en antitragus, en micrognathie die evolueert naar prognathisme). Cryptorchidie, conductief gehoorverlies en progressieve thoracale kyfose werden ook reeds gerapporteerd."},"pt":{"name":"Síndrome de perturbação do desenvolvimento intelectual-polidactilia-cabelo impenteável","synonyms":["Síndrome Kozlowski-Krajewska"]},"pl":{"name":"Niepełnosprawność intelektualna - polidaktylia - nieuczesane włosy","synonyms":["Zespół Kozlowskiego i Krajewskiej"]},"cs":{"name":"Syndrom zahrnující mentální retardaci, polydaktylii a neučesatelné vlasy","synonyms":["Kozlowského-Krajewské syndrom","Kozlowski-Krajewské syndrom"]},"uk":{"name":"Синдром інтелектуальної недостатності-полідактилії-випадіння волосся","synonyms":["Синдром Козловського-Краєвської"],"definition":"Intellectual disability-polydactyly-uncombable hair syndrome is a multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, postaxial polydactyly, phalangeal hypoplasia, 2-3 toe syndactyly, uncombable hair and facial dysmorphism (including frontal bossing, hypotelorism, narrow palpebral fissures, nasal bridge and lips, prominent nasal root, large abnormal ears with prominent antihelix, poorly folded helix, underdeveloped lobule and antitragus, and micrognathia evolving into prognatism). Cryptorchidism, conductive hearing loss and progressive thoracic kyphosis were also reported."},"zh":{"name":"智力障碍-多指（趾）畸形-异常毛发综合征","synonyms":["Kozlowski-Krajewska 综合征"]},"tr":{"name":"Zihinsel yetersizlik-polidaktili-taranamayan saç sendromu","synonyms":["Kozlowski-Krajewska sendromu"]}},"xrefs":[{"source":"ICD-10","code":"Q87.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0017682","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537615","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931547","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3141","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"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]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"9028447[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_9028447[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000174","label":"Abnormal palate morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000772","label":"Abnormal rib morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005930","label":"Abnormality of epiphysis morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010978","label":"Abnormality of immune system physiology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009738","label":"Abnormality of the antihelix","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009896","label":"Abnormality of the antitragus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001595","label":"Abnormality of the hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006265","label":"Aplasia/Hypoplasia of fingers","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009906","label":"Aplasia/Hypoplasia of the earlobes","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100840","label":"Aplasia/Hypoplasia of the eyebrow","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001991","label":"Aplasia/Hypoplasia of toe","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010059","label":"Broad hallux phalanx","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000405","label":"Conductive hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004299","label":"Hernia of the abdominal wall","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008736","label":"Hypoplasia of penis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000601","label":"Hypotelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002808","label":"Kyphosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000303","label":"Mandibular prognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010508","label":"Metatarsus valgus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000446","label":"Narrow nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000768","label":"Pectus carinatum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001162","label":"Postaxial hand polydactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002217","label":"Slow-growing hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001770","label":"Toe syndactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030056","label":"Uncombable hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000582","label":"Upslanted palpebral fissure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006610","label":"Wide intermamillary distance","frequency":"Very frequent (99-80%)","criteria":null}]}}