{"orpha":1541,"name":"Craniosynostosis, Boston type","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Craniosynostosis, Warman type","Warman-Mulliken-Hayward syndrome"],"definition":"Craniosynostosis, Boston type is a form of syndromic craniosynostosis, characterized by a highly variable craniosynostosis with frontal bossing, turribrachycephaly and cloverleaf skull anomaly. Hypoplasia of the supraorbital ridges, cleft palate, extra teeth and limb anomalies (triphalangeal thumb, 3-4 syndactyly of the hands, a short first metatarsal, middle phalangeal agenesis in the feet) have also been described. Associated problems include headache, poor vision, and seizures. Intelligence is normal.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1541/","orphanet_url":"https://www.orpha.net/en/disease/detail/1541","names":{"fr":{"name":"Craniosynostose type Boston","synonyms":["Craniosynostose type Warman","Syndrome de Warman-Mulliken-Hayward"],"definition":"Forme de craniosynostose syndromique, caractérisée par une craniosynostose de degré très variable avec saillie des bosses frontales, une turribrachycéphalie et une malformation du crâne dite en feuille de trèfle. Une hypoplasie des crêtes supra-orbitaires, une fente palatine, des dents surnuméraires et des malformations des membres (triphalangie, syndactylie des doigts 3-4, premier métatarsien court, une agénésie des phalanges moyennes des orteils) ont également été décrites. Les manifestations associées incluent des maux de tête, une mauvaise vision et des crises convulsives. L'intelligence n'est pas affectée."},"de":{"name":"Kraniosynostose Typ Boston","synonyms":["Kraniosynostose Typ Warman","Warman-Mulliken-Hayward-Syndrom"],"definition":"Die Kraniosynostose Typ Boston ist eine Form der syndromalen Kraniosynostose, die sich durch eine hochvariable Expressivität der Nahtstörung und der Schädelanomalien in Form einer fronto-orbitale Rezession oder Balkonstirn oder Turribrachyzephalie oder Kleeblattschädel auszeichnet. Hypoplasie der supraorbitalen Grate, Gaumenspalten, zusätzliche Zähne und Gliedmaßenanomalien (triphalangealer Daumen, 3-4 Syndaktylien der Hände, verkürzte erste Metatarsalia, Agenesie der mittlere Phalangen in den Füßen) wurden ebenfalls beschrieben. Begleitende Symptome sind schwere Kopfschmerzen, häufig auch Sehstörungen (Myopie oder Hyperopie) und Anfälle. Die Intelligenz ist normal."},"es":{"name":"Craneosinostosis tipo Boston","synonyms":["Craneosinostosis tipo Warman","Síndrome de Warman-Muliken-Hayward"],"definition":"Es una forma de craneosinostosis sindrómica caracterizada por craneosinostosis altamente variable con frente prominente, turri-braquicefalia y cráneo en trébol. También se ha descrito hipoplasia de las crestas supraorbitales, fisura palatina, dientes supernumerarios y anomalías de las extremidades (pulgar trifalángico, sindactilia del 3er y 4º dedos de las manos, primer metatarsiano corto, agenesia de la falange media de los dedos del pie). Otros problemas asociados incluyen cefaleas, visión deficiente y convulsiones. La inteligencia es normal."},"it":{"name":"Craniosinostosi, tipo Boston","synonyms":["Craniosinostosi, tipo Warman","Sindrome di Warman-Mulliken-Hayward"],"definition":"La craniosinostosi tipo Boston è una forma di craniosinostosi sindromica caratterizzata da craniosinostosi di grado molto variabile associata a fronte bombata, turribrachicefalia e cranio a trifoglio. Possono essere presenti anche ipoplasia delle creste sopraorbitali, palatoschisi e anomalie dei denti e degli arti (pollice trifalangeo, sindattilia del terzo e quarto dito della mano, primo metatarso corto e agenesia della falange media del piede). Si possono associare la cefalea, la riduzione della acuità visiva e le crisi epilettiche. L'intelligenza è normale."},"nl":{"name":"Craniosynostose, Boston-type","synonyms":["Craniosynostose, Warman-type","Syndroom van Warman-Mulliken-Hayward"],"definition":"Craniosynostose, Boston-type (CSB) is een vorm van syndromale craniosynostose die wordt gekarakteriseerd door zeer variabele craniosynostose met een bol voorhoofd, turribrachycefalie, en klaverbladschedel. Hypoplasie van de supraorbitale randen, gespleten verhemelte, extra tanden en ledemaatanomalieën (trifalangeale duim, 3-4 syndactylie van de handen, een kort eerste metatarsaal, agenesie van de middelste falangen van de voet) werden ook reeds beschreven. Geassocieerde problemen zijn onder meer hoofdpijn, slecht gezichtsvermogen, en insulten. De intelligentie is normaal."},"pt":{"name":"Craniossinostose, tipo Boston","synonyms":["Craniossinostose, tipo Warman","Síndrome Warma-Mulliken-Hayward"]},"pl":{"name":"Kraniosynostoza typu bostońskiego","synonyms":["Kraniosynostoza typu Warmana","Zespół Warmana, Mullikena i Haywarda"]},"cs":{"name":"Kraniosynostóza, typ Boston","synonyms":["Kraniosynostóza, Warmanův typ","Warmanův-Mullikenův-Haywardův syndrom","Warman-Mulliken-Haywardův syndrom"]},"uk":{"name":"Краніосиностоз, бостонський тип","synonyms":["Краніосиностоз, тип Уормана","Синдром Уормана-Маллікена-Хейворда"],"definition":"Craniosynostosis, Boston type is a form of syndromic craniosynostosis, characterized by a highly variable craniosynostosis with frontal bossing, turribrachycephaly and cloverleaf skull anomaly. Hypoplasia of the supraorbital ridges, cleft palate, extra teeth and limb anomalies (triphalangeal thumb, 3-4 syndactyly of the hands, a short first metatarsal, middle phalangeal agenesis in the feet) have also been described. Associated problems include headache, poor vision, and seizures. Intelligence is normal."},"zh":{"name":"颅缝早闭，波士顿型","synonyms":["Warman-Mulliken-Hayward 综合征"]},"tr":{"name":"Kraniosinostoz, Boston tipi","synonyms":["Kraniyosinostoz, Warman tipi","Warman-Mulliken-Hayward sendromu"]}},"xrefs":[{"source":"OMIM","code":"604757","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q75.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.GY","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1597026357"},{"source":"MONDO","code":"0011481","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C565753","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1858160","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5538","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":139393,"name":"Syndromic craniosynostosis","classifications":[147,156,199]}],"children":[],"genes":[{"symbol":"MSX2","name":"msh homeobox 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23918290[PMID]_23949913[PMID]","hgnc":"7392","ensembl":"ENSG00000120149","omim":"123101","loci":["5q35.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"23949913[PMID]_23918290[PMID]_8357019[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_23949913[PMID]_23918290[PMID]_8357019[PMID]"}],"phenotypes":null}