{"orpha":363417,"name":"Temtamy preaxial brachydactyly syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare, genetic, syndromic dysostosis characterized by bilateral, symmetrical, preaxial brachydactyly associated with hyperphalangy, motor developmental delay and intellectual disability, growth retardation, sensorineural hearing loss, dental abnormalities (incuding misalignment of teeth, talon cusps, microdontia), and facial dysmorphism that includes plagiocephaly, round face, hypertelorism, malar hypoplasia, malformed ears, microstomia and micro/retrognathia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-363417/","orphanet_url":"https://www.orpha.net/en/disease/detail/363417","names":{"fr":{"name":"Syndrome de brachydactylie préaxiale de Temtamy","definition":"Syndrome de dysostose génétique rare caractérisé par une brachydactylie préaxiale bilatérale et symétrique associée à une hyperphalangie, un retard de développement moteur et une déficience intellectuelle, un retard de croissance, une surdité neurosensorielle, des anomalies dentaires (y compris un mauvais alignement dentaire, des cuspides talons, une microdontie) et une dysmorphie faciale à type de plagiocéphalie, de visage rond, d'hypertélorisme, d'hypoplasie malaire, de malformations d'oreilles, de microstomie et de micro/rétrognathie."},"de":{"name":"Temtamy präaxiales Brachydaktylie-Syndrom"},"es":{"name":"Síndrome de braquidactilia preaxial de Temtamy","definition":"El síndrome de braquidactilia preaxial de Temtamy es un síndrome de disostosis, genético y poco frecuente, caracterizado por braquidactilia preaxial, simétrica y bilateral asociada con hiperfalangia, retraso del desarrollo motor y discapacidad intelectual, retraso en el crecimiento, pérdida auditiva neurosensorial, anomalías dentales (incluyendo mala alineación de los dientes, talón cuspídeo, microdoncia) y dismorfia facial que incluye plagiocefalia, cara redonda, hipertelorismo, hipoplasia malar, orejas malformadas, microstomia y micro / retrognatia."},"it":{"name":"Sindrome da brachidattilia preassiale di Temtamy","definition":"La sindrome da brachidattilia preassiale di Temtamy è una disostosi genetica rara, caratterizzata da brachidattilia preassiale bilaterale simmetrica associata ad iperfalangia, ritardo dello sviluppo motorio, disabilità intellettiva, ritardo della crescita, sordità neurosensoriale, anomalie dei denti (disallineamento, cuspidi ad artiglio, microdontia) e dismorfismi facciali (plagiocefalia, viso arrotondato, ipertelorismo, ipoplasia malare, orecchie malformate, microstomia e micro/retrognazia)."},"nl":{"name":"Preaxiale brachydactylie van Temtamy-syndroom","definition":"Temtamy pre-axiale brachydactylie-syndroom is een zeldzaam, genetisch dysostosesyndroom dat gekarakteriseerd wordt door bilaterale, symmetrische, pre-axiale brachydactylie geassocieerd met hyperfalangie, motorische ontwikkelingsachterstand en intellectuele achterstand, groeiretardatie, sensorineuraal gehoorverlies, dentale anomalieën (waaronder verkeerde uitlijning van de tanden, scherpe uitsteeksels aan de linguale zijde van de tanden ('talon cusps'), en microdontie), en faciale dysmorfie met onder meer plagiocefalie, rond gezicht, hypertelorisme, hypoplasie van de jukbeenderen, misvormde oren, microstomie en micro-/retrognathie."},"pt":{"name":"Síndrome de braquidactilia preaxial de Temtamy"},"pl":{"name":"Zespół brachydaktylii przedosiowej Temtamy","definition":"*Zespół brachydaktylii przedosiowej Temtamy jest rzadką, genetycznie uwarunkowaną dyzostozą. Charakteryzuje się obustronną, symetryczną, przedosiową brachydaktylią związaną z obecnością nadliczbowych paliczków, opóźnieniem rozwoju ruchowego i niepełnosprawnością intelektualną, opóźnieniem wzrastania, niedosłuchem czuciowo-nerwowym, nieprawidłowościami uzębienia (nieprawidłowe ustawienie zębów, guzki na tylnej powierzchni zębów, małe zęby) oraz dysmorfią twarzy, która obejmuje plagiocefalię (skośnogłowie), okrągłą twarz, hiperteloryzm, hipoplazję kości jarzmowych, zniekształcone uszy, małe usta i mikro/retrognację."},"cs":{"name":"Temtamyové syndrom preaxiální brachydaktylie"},"uk":{"name":"Синдром преаксіальної брахідактилії Темтамі","definition":"A rare, genetic, syndromic dysostosis characterized by bilateral, symmetrical, preaxial brachydactyly associated with hyperphalangy, motor developmental delay and intellectual disability, growth retardation, sensorineural hearing loss, dental abnormalities (incuding misalignment of teeth, talon cusps, microdontia), and facial dysmorphism that includes plagiocephaly, round face, hypertelorism, malar hypoplasia, malformed ears, microstomia and micro/retrognathia."},"zh":{"name":"Temtamy型轴前短指综合征","definition":"颅面部发育不全轴前短指畸形综合征是一种罕见的遗传性发育异常综合征，其特征为双侧对称的轴前短指综合征，伴有多指畸形、运动发育迟缓和智力障碍、生长迟缓、感音神经性听力丧失、牙齿畸形(包括牙齿错位、畸形舌侧尖、小牙)和面部畸形（包括斜头畸形、圆脸、眼距过宽、颧骨发育不全、耳畸形、口过小、小颌畸形和下颌后缩）。"},"tr":{"name":"Temtamy preaksiyal brakidaktili sendromu"}},"xrefs":[{"source":"OMIM","code":"605282","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LB75.Y","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0011533","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536958","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1854466","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9679","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":371212,"name":"Congenital disorder of glycosylation with deafness as a major feature","classifications":[147,156,200]},{"orpha":371047,"name":"Congenital disorder of glycosylation with neurological involvement","classifications":[156,181]},{"orpha":371195,"name":"Congenital disorder of glycosylation-related bone disorder","classifications":[147,156]},{"orpha":309450,"name":"Disorder of O-xylosylglycan synthesis","classifications":[150,156]},{"orpha":498454,"name":"Dysostosis with brachydactyly with extraskeletal manifestations","classifications":[147,156,199]},{"orpha":139042,"name":"Malformation syndrome with odontal and/or periodontal component","classifications":[147,197]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"CHSY1","name":"chondroitin sulfate synthase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"21129728[PMID]","hgnc":"17198","ensembl":"ENSG00000131873","omim":"608183","loci":["15q26.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":18.0,"area":"Worldwide","status":"Validated","source":"21129727[PMID]_2129728[PMID]_19952732[PMID]_15365460[PMID]_9823490[PMID]"},{"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":"2019-09-20","source":"24269551[PMID]_21129727[PMID]_19952732[PMID]_9823490[PMID]","terms":[{"hpo":"HP:0011297","label":"Abnormal digit morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009942","label":"Duplication of thumb phalanx","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000164","label":"Abnormality of the dentition","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001090","label":"Abnormally large globe","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009608","label":"Complete duplication of proximal phalanx of the thumb","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009966","label":"Complete duplication of the middle phalanx of the 3rd finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000668","label":"Hypodontia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009970","label":"Partial duplication of the proximal phalanx of the 3rd finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009944","label":"Partial duplication of thumb phalanx","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006152","label":"Proximal symphalangism of hands","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008625","label":"Severe sensorineural hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100266","label":"Synostosis of carpals/tarsals","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011087","label":"Talon cusp","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001566","label":"Widely-spaced maxillary central incisors","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0040159","label":"Abnormal spaced incisors","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011078","label":"Abnormality of canine","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000517","label":"Abnormality of the lens","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012795","label":"Abnormality of the optic disc","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000592","label":"Blue sclerae","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040022","label":"Clinodactyly of the 2nd finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010554","label":"Cutaneous finger syndactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000327","label":"Hypoplasia of the maxilla","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000691","label":"Microdontia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000160","label":"Narrow mouth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000677","label":"Oligodontia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002465","label":"Poor speech","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005037","label":"Proximal radio-ulnar synostosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009466","label":"Radial deviation of finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000311","label":"Round face","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001773","label":"Short foot","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010109","label":"Short hallux","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003196","label":"Short nose","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004279","label":"Short palm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001328","label":"Specific learning disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008368","label":"Tarsal synostosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100345","label":"Tibial deviation of the 2nd toe","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100347","label":"Tibial deviation of the 5th toe","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000692","label":"Tooth malposition","frequency":"Occasional (29-5%)","criteria":null}]}}