{"orpha":1262,"name":"Böök syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare autosomal dominant ectodermal dysplasia syndrome characterized by premolar aplasia, hyperhidrosis, and premature graying of the hair. Additional features may include a narrow palate, hypoplastic nails, eyebrow anomalies, a unilateral simian crease, and poorly formed dermatoglyphics.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1262/","orphanet_url":"https://www.orpha.net/en/disease/detail/1262","names":{"fr":{"name":"Syndrome de Böök","definition":"Dysplasie ectodermique rare à transmission autosomique dominante. Elle se caractérise par une aplasie des prémolaires, une hyperhidrose et un grisonnement prématuré des cheveux. Les manifestations additionnelles décrites chez l'individu affecté de manière isolé incluent un palais étroit, des ongles hypoplasiques, des anomalies des sourcils, un pli palmaire transverse unilatéral et des dermatoglyphes peu formés."},"de":{"name":"Böök-Syndrom","definition":"Ein seltenes autosomal-dominantes Ektodermale-Dysplasie-Syndrom, das durch Prämolarenaplasie, Hyperhidrose und vorzeitiges Ergrauen der Haare gekennzeichnet ist. Weitere Merkmale können ein schmaler Gaumen, hypoplastische Nägel, Anomalien der Augenbrauen, einseitige Vierfingerfurche und schwach ausgeprägte Dermatoglyphen sein."},"es":{"name":"Síndrome de Böök","definition":"Es un síndrome de displasia ectodérmica autosómico dominante caracterizado por aplasia premolar, hiperhidrosis y encanecimiento prematuro del cabello. Otros rasgos adicionales descritos incluyen paladar estrecho, hipoplasia ungueal, anomalías en las cejas, pliegue simiesco unilateral, y dermatoglifos mal formados."},"it":{"name":"Sindrome di Böök","definition":"La sindrome di Böök è una condizione rara autosomica dominante da displasia ectodermica, descritta in una famiglia svedese (25 casi su 4 generazioni), e in un altro caso isolato. È caratterizzata dall'aplasia dei denti premolari, iperidrosi e incanutimento precoce dei capelli. Ulteriori segni presenti nel caso isolato erano il palato stretto, l'ipoplasia ungueale, le anomalie delle sopracciglia, la linea delle quattro dita monolateralmente e l'ipoplasia dei dermatoglifi."},"nl":{"name":"Syndroom van Böök","definition":"Een zeldzaam autosomaal dominant syndroom van ectodermale dysplasie, gekenmerkt door aplasie van premolaar, hyperhidrose, en premature vergrijzing van haar. Mogelijke bijkomende kenmerken zijn onder meer smal gehemelte, hypoplastische nagels, anomalieën van wenkbrauwen, unilaterale doorlopende dwarse handlijn van handpalm, en ondermaats gevormde dermatoglyfen."},"pt":{"name":"Síndrome Böök"},"pl":{"name":"Zespół Bööka","definition":"Rzadki zespół dysplazji ektodermalnej, dziedziczony autosomalnie dominująco, który charakteryzuje się aplazją zębów przedtrzonowych, nadmierną potliwością i przedwczesnym siwieniem włosów. Dodatkowe cechy mogą obejmować wąskie podniebienie, hipoplastyczne paznokcie, anomalie brwi, jednostronną bruzdę poprzeczną dłoni oraz i źle uformowane dermatoglify."},"cs":{"name":"Böökův syndrom"},"uk":{"name":"Синдром Бьока","definition":"A rare autosomal dominant ectodermal dysplasia syndrome characterized by premolar aplasia, hyperhidrosis, and premature graying of the hair. Additional features may include a narrow palate, hypoplastic nails, eyebrow anomalies, a unilateral simian crease, and poorly formed dermatoglyphics."},"zh":{"name":"B÷÷k综合征"},"tr":{"name":"Böök sendromu"}},"xrefs":[{"source":"OMIM","code":"112300","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q82.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD27.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1155362378"},{"source":"MONDO","code":"0007207","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C562993","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0457014","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"932","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":79373,"name":"Ectodermal dysplasia syndrome","classifications":[147,156,187]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":26.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]"},{"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":null,"terms":[{"hpo":"HP:0000164","label":"Abnormality of the dentition","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000975","label":"Hyperhidrosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000668","label":"Hypodontia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002216","label":"Premature graying of hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0200055","label":"Small hand","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007477","label":"Abnormal dermatoglyphics","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000534","label":"Abnormal eyebrow morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007598","label":"Bilateral single transverse palmar creases","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001804","label":"Hypoplastic fingernail","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000189","label":"Narrow palate","frequency":"Frequent (79-30%)","criteria":null}]}}