{"orpha":1519,"name":"SPECC1L-related hypertelorism syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Brachycephalofrontonasal dysplasia","Teebi hypertelorism syndrome"],"definition":"A rare autosomal dominant malformation syndrome characterized by hypertelorism, omphalocoele, cleft lip, ear pits, uterine malformation (bicornuate uterus), and more variably by diaphragmatic hernia and congenital heart defects.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1519/","orphanet_url":"https://www.orpha.net/en/disease/detail/1519","names":{"fr":{"name":"Syndrome d'hypertélorisme associé à SPECC1L","synonyms":["Dysplasie brachycéphalofrontonasale","Syndrome d'hypertélorisme de Teebi"],"definition":"Syndrome de malformation autosomique dominant rare caractérisé par un hypertélorisme, une omphalocèle, une fente labiale, un sinus préauriculaire, une malformation utérine (utérus bicorne), et, de manière plus inconstante, par une hernie diaphragmatique et des malformations cardiaques congénitales."},"de":{"name":"SPECC1L-assoziiertes Hypertelorismus-Syndrom","synonyms":["Dysplasie, brachy-zephalo-fronto-nasale","Dysplasie, kranio-fronto-nasale, Typ Teebi","Teebi-Hypertelorismus-Syndrom","Teebi-Syndrom"],"definition":"Ein seltenes autosomal-dominantes Fehlbildungssyndrom, das durch Hypertelorismus, Omphalozele, Lippenspalte, Ohrmuscheln, Uterus bicornis, Zwerchfellhernie und angeborene Herzfehler gekennzeichnet ist."},"es":{"name":"Síndrome de hipertelorismo asociado a SPECC1L","synonyms":["Displasia braquicefalofrontonasal","Síndrome de hipertelorismo de Teebi"],"definition":"Es un síndrome malformativo autosómico dominante poco frecuente caracterizado por hipertelorismo, onfalocele, labio leporino, fosetas auriculares, malformación uterina (útero bicorne) y, de manera más variable, por hernia diafragmática y defectos cardíacos congénitos."},"it":{"name":"Sindrome da ipertelorismo correlata a SPECC1L","synonyms":["Displasia brachicefalo-fronto-nasale","Sindrome da ipertelorismo di Teebi"],"definition":"Si tratta di una malattia malformativa rara, a trasmissione autosomica dominante, caratterizzata da ipertelorismo, onfalocele, labioschisi, fossette auricolari e utero malformato (bicorne), variabilmente associati all'ernia diaframmatica e alle cardiopatie congenite."},"nl":{"name":"SPECC1L-gerelateerd hypertelorisme-syndroom","synonyms":["Hypertelorisme-syndroom van Teebi","Brachycefalofrontonasale dysplasie"],"definition":"Een zeldzaam autosomaal dominant malformatiesyndroom, gekarakteriseerd door hypertelorisme, omfalocele, gespleten lip, pre-auriculaire fistel, malformatie van uterus (uterus bicornis), en meer variabel door middenrifbreuk en congenitale hartdefecten."},"pt":{"name":"Síndrome de hipertelorismo SPECC1L-relacionado","synonyms":["Displasia braqui-cefalo-fronto-nasal","Síndrome de hipertelorismo Teebi"]},"pl":{"name":"Zespół hiperteloryzmu zwiazany z SPECC1L","synonyms":["Dysplazja czaszkowo-czołowo-nosowa, typu Teebi","Dysplazja skrzelowo-czaszkowo-czołowo-nosowa","Zespół hiperteloryzmu Teebi","Zespół Teebi"]},"cs":{"name":"Syndrom hypertelorismu spojený se SPECC1L","synonyms":["Brachycefalofrontonazální dysplázie","Kraniofrontonazální dysplázie, Teebiho typ","Teebiho syndrom s hypertelorismem","Teebiho syndrom"]},"uk":{"name":"Синдром гіпертелоризму, повязаний з SPECC1L","synonyms":["Брахіцефалофронтоназальна дисплазія","Синдром гіпертелоризму Тібі"],"definition":"A rare autosomal dominant malformation syndrome characterized by hypertelorism, omphalocoele, cleft lip, ear pits, uterine malformation (bicornuate uterus), and more variably by diaphragmatic hernia and congenital heart defects."},"zh":{"name":"眼距过宽症，Teebi型","synonyms":["颅额鼻发育不全，Teebi型"]},"tr":{"name":"Hipertelorizm, Teebi türü","synonyms":["Teebi sendromu","Teebi hipertelorizm sendromu","Brakisefalofrontonazal displazi","Kraniyofrontonazal displazi, Teebi tipi"]}},"xrefs":[{"source":"OMIM","code":"145420","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0800025","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0796179","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"957","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":250,"name":"Frontonasal dysplasia","classifications":[147,156,199]},{"orpha":330206,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[156]},{"orpha":102285,"name":"Multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[147]}],"children":[],"genes":[{"symbol":"SPECC1L","name":"sperm antigen with calponin homology and coiled-coil domains 1 like","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"26111080[PMID]","hgnc":"29022","ensembl":"ENSG00000100014","omim":"614140","loci":["22q11.23"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":25.0,"area":"Worldwide","status":"Validated","source":"26111080[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_26111080[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0002553","label":"Highly arched eyebrow","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000426","label":"Prominent nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000574","label":"Thick eyebrow","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000233","label":"Thin vermilion border","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011039","label":"Abnormal helix morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000232","label":"Everted lower lip vermilion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006101","label":"Finger syndactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004467","label":"Preauricular pit","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011220","label":"Prominent forehead","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000311","label":"Round face","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000049","label":"Shawl scrotum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003196","label":"Short nose","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001831","label":"Short toe","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001537","label":"Umbilical hernia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000349","label":"Widow's peak","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006288","label":"Advanced eruption of teeth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011675","label":"Arrhythmia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001631","label":"Atrial septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000248","label":"Brachycephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010751","label":"Chin dimple","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000086","label":"Ectopic kidney","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010458","label":"Female pseudohermaphroditism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001539","label":"Omphalocele","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000202","label":"Orofacial cleft","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001643","label":"Patent ductus arteriosus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000767","label":"Pectus excavatum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000520","label":"Proptosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001636","label":"Tetralogy of Fallot","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Occasional (29-5%)","criteria":null}]}}