{"orpha":284149,"name":"Craniosynostosis-dental anomalies","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Kreiborg-Pakistani syndrome"],"definition":"A rare syndromic craniosynostosis characterized by premature fusion of multiple or all calvarial sutures (resulting in variable abnormal shape of the head), midface hypoplasia, delayed and ectopic tooth eruption and supernumerary teeth. Associated facial dysmorphism includes proptosis, hypertelorism, beaked nose, and relative prognathism. Variable digital anomalies (e.g. finger and/or toe syndactyly, clinodactyly), short stature, cognitive and/or motor delay, high palate, ear deformity and conductive hearing loss have also been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-284149/","orphanet_url":"https://www.orpha.net/en/disease/detail/284149","names":{"fr":{"name":"Craniosynostose-anomalies dentaires","synonyms":["Syndrome de Kreiborg-Pakistani"],"definition":"Syndrome rare de malformation crânienne d'origine génétique caractérisé par une fusion prématurée de plusieurs ou de toutes les sutures calvariales (entraînant une anomalie variable de la forme de la tête), une hypoplasie de l'étage moyen du visage, une éruption dentaire retardée et ectopique et des dents surnuméraires. La dysmorphie faciale associée est à type de proptose, d'hypertélorisme, de nez en forme de bec et de prognathisme relatif. Des anomalies digitales variables (syndactylie des doigts et/ou des orteils, clinodactylie), une petite taille, un retard cognitif et/ou moteur, un palais ogival, une déformation de l'oreille et une surdité de transmission ont également été rapportés."},"de":{"name":"Kraniosynostose und Zahnanomalien","synonyms":["Kreiborg-Pakistani-Syndrom"]},"es":{"name":"Craneosinostosis y anomalías dentales","synonyms":["Síndrome de Kreiborg-Pakistani"],"definition":"La craneosinostosis y anomalías dentales es un síndrome de malformación craneal, genético y poco frecuente, caracterizado por la fusión prematura de múltiples o de todas las suturas craneales (que resultan en una forma anómala variable de la cabeza), hipoplasia mediofacial, erupción dental retrasada y ectópica y dientes supernumerarios. La dismorfia facial asociada incluye proptosis, hipertelorismo, nariz picuda y prognatismo relativo. También se han descrito anomalías variables de los dedos (por ejemplo, sindactilia de los dedos de la mano y/o de los pies, clinodactilia), talla baja, retraso cognitivo y/o motor, paladar ojival, malformación auricular y pérdida auditiva conductiva."},"it":{"name":"Sindrome da craniosinostosi e anomalie dei denti","synonyms":["Sindrome di Kreiborg-Pakistani"],"definition":"La sindrome che associa la craniosinostosi alle anomalie dei denti è una malformazione genetica rara del cranio, caratterizzata dalla fusione prematura di diverse, o di tutte le suture della volta cranica (con conseguenti anomalie della forma del cranio, di gravità variabile), ipoplasia medio-facciale, ritardo ed ectopia dell'eruzione dei denti e presenza di denti soprannumerari. I dismorfismi facciali caratteristici comprendono la proptosi, l'ipertelorismo, il naso a becco e il prognatismo relativo. I pazienti possono presentare anche anomalie variabili delle dita (ad esempio sindattilia delle dita delle mani e/o dei piedi, clinodattilia), bassa statura, ritardo cognitivo e/o motorio, palato ogivale, deformità delle orecchie e sordità di conduzione."},"nl":{"name":"Craniosynostose - dentale anomalieën","synonyms":["Syndroom van Kreiborg-Pakistani"],"definition":"Craniosynostose - dentale anomalieën is een zeldzaam, genetisch, craniaal malformatiesyndroom dat gekarakteriseerd wordt door premature fusie van meerdere of alle schedelnaden (met als resultaat een variabele abnormale vorm van het hoofd), hypoplasie van het middengezicht, vertraagde en ectopische tanderuptie en surnumeraire tanden. Geassocieerde faciale dysmorfie omvat proptosis, hypertelorisme, bekvormige neus, en relatieve prognathie. Variabele anomalieën van vingers/tenen (e.g. syndactylie, clinodactylie van vingers en/of tenen), kleine gestalte, cognitieve en/of motorische achterstand, hoog verhemelte, oormisvorming en conductief gehoorverlies werden ook reeds gerapporteerd."},"pt":{"name":"Craniossinostose e anomalias dentárias"},"pl":{"name":"Kraniosynostoza i wady zębów","synonyms":["Zespół Kreiborga i Pakistaniego"],"definition":"*Kraniosynostoza i wady zębów to rzadki, genetycznie uwarunkowany zespół malformacji czaszki, który charakteryzuje się przedwczesnym zarośnięciem wielu lub wszystkich szwów sklepienia czaszki (co skutkuje różnego stopnia nieprawidłowym kształtem głowy), hipoplazją środkowej części twarzy, opóźnionym i ektopowym wyrzynaniem się zębów oraz zębami nadliczbowymi. Towarzysząca dysmorfia twarzy obejmuje wytrzeszcz, hiperteloryzm, zakrzywiony nos i nieznaczny prognatyzm. Opisywano również różne wady palców (np. syndaktylia palców dłoni i/lub stóp, klinodaktylia), niski wzrost, opóźnienie rozwoju poznawczego i/lub ruchowego, wysokie podniebienie, deformacje uszu i niedosłuch przewodzeniowy."},"cs":{"name":"Kraniosynostóza a anomálie zubů","synonyms":["Kreiborgův-Pakistaniho syndrom","Kreiborg-Pakistaniho syndrom"]},"uk":{"name":"Краніосиностоз - зубні аномалії","synonyms":["Синдром Крейборга-Пакистані"],"definition":"A rare syndromic craniosynostosis characterized by premature fusion of multiple or all calvarial sutures (resulting in variable abnormal shape of the head), midface hypoplasia, delayed and ectopic tooth eruption and supernumerary teeth. Associated facial dysmorphism includes proptosis, hypertelorism, beaked nose, and relative prognathism. Variable digital anomalies (e.g. finger and/or toe syndactyly, clinodactyly), short stature, cognitive and/or motor delay, high palate, ear deformity and conductive hearing loss have also been reported."},"zh":{"name":"颅骨融合症-牙齿畸形","synonyms":["Kreiborg-Pakistani 综合征"],"definition":"颅缝早闭-牙齿发育异常是一种罕见的遗传性颅骨畸形综合征，其特征是多个或全部颅缝过早融合（导致多种头部形状异常）、面中部发育不良、延迟和异位牙齿萌出和多生牙。相关的面部畸形包括眼球突出、眼距过宽、喙鼻和相对前突。此外，还报告了各种指趾畸形（如并指（趾）畸形，屈趾畸形）、身材矮小、认知和/或运动发育延迟、高颚弓、耳畸形和传导性听力损失。"},"tr":{"name":"Kraniosinostozis-diş anomalileri","synonyms":["Kreiborg-Pakistan sendromu"]}},"xrefs":[{"source":"OMIM","code":"614188","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0013615","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3280073","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":183580,"name":"Genetic malformation syndrome with odontal and/or periodontal component","classifications":[156]},{"orpha":139042,"name":"Malformation syndrome with odontal and/or periodontal component","classifications":[147,197]},{"orpha":139393,"name":"Syndromic craniosynostosis","classifications":[147,156,199]}],"children":[],"genes":[{"symbol":"IL11RA","name":"interleukin 11 receptor subunit alpha","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"21741611[PMID]","hgnc":"5967","ensembl":"ENSG00000137070","omim":"600939","loci":["9p13.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}