{"orpha":64542,"name":"Acrofacial dysostosis, Kennedy-Teebi type","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Kennedy-Teebi syndrome"],"definition":"A rare acrofacial dysostosis due to the presence of manifestations not usually seen in Nager syndrome (NS) such as microcephaly, blepharophimosis, microtia, a peculiar beaked nose, cleft lip and palate, symmetrical involvement of the thumbs and great toes and developmental delay. It has since been suggested that these features can also be a part of the NS phenotype.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-64542/","orphanet_url":"https://www.orpha.net/en/disease/detail/64542","names":{"fr":{"name":"Dysostose acrofaciale de Kennedy-Teebi","synonyms":["Syndrome de Kennedy-Teebi"],"definition":"Dysostose acrofaciale rare due à la présence de manifestations qui ne sont pas habituellement observées dans le syndrome de Nager (SN), telles qu'une microcéphalie, un blepharophimosis, une microtie, un nez caractéristique «&nbsp;en bec&nbsp;», une fente labiale et palatine, une atteinte symétrique des pouces et des gros orteils et un retard de développement. Il a depuis été proposé que ces caractéristiques pouvaient également faire partie du phénotype du SN."},"de":{"name":"Dysostose, akrofaziale, Typ Kennedy-Teebi","synonyms":["Kennedy-Teebi-Syndrom"]},"es":{"name":"Disostosis acrofacial tipo Kennedy-Teebi","definition":"Es una disostosis acrofacial poco frecuente debida a la presencia de características que, por lo general, no están presentes en el síndrome de Nager (SN) tales como microcefalia, blefarofimosis, microtia, nariz peculiar con forma de pico, fisura labiopalatina, afectación simétrica de los pulgares y dedos gordos de los pies y retraso psicomotor. Desde entonces, se ha sugerido que estas características también pueden formar parte del fenotipo del SN."},"it":{"name":"Disostosi acrofacciale, tipo Kennedy-Teebi","synonyms":["Sindrome di Kennedy-Teebi"],"definition":"La disostosi acrofacciale, tipo Kennedy-Teebi, è stata descritta come nuova forma di disostosi acrofacciale caratterizzata da segni di solito non presenti nella sindrome di Nager (NS), che comprendono la microcefalia, la blefarofimosi, la microtia, un caratteristico naso ''a becco'', la schisi labiale e palatina, l'interessamento simmetrico dei pollici e degli alluci e il ritardo dello sviluppo. E' stato ipotizzato che queste caratteristiche possano rientrare nel fenotipo clinico della NS."},"nl":{"name":"Acrofaciale dysostose, Kennedy-Teebi-type","synonyms":["Syndroom van Kennedy-Teebi"],"definition":"Een zeldzame acrofaciale dysostose, gekarakteriseerd door de aanwezigheid van manifestaties die doorgaans niet worden waargenomen bij syndroom van Nager (NS) zoals microcefalie, blefarofimose, microtie, een eigenaardige haakneus, gespleten lip en verhemelte, symmetrische betrokkenheid van de duimen en dikke tenen, en ontwikkelingsachterstand. Er wordt geopperd dat deze kenmerken ook deel kunnen uitmaken van het NS-fenotype."},"pt":{"name":"Disostose acrofacial autossómica recessiva","synonyms":["Disostose acrofacial tipo Kennedy-Teebi","Síndrome de Kennedy-Teebi"]},"pl":{"name":"Dyzostoza kończynowo-twarzowa typu Kennedy'ego i Teebiego","synonyms":["Zespół Kennedy'ego i Teebiego"]},"cs":{"name":"Akrofaciální dysostóza, Kennedyové-Teebiho typ","synonyms":["Kennedyové-Teebiho syndrom","Kennedy-Teebiho syndrom"]},"uk":{"name":"Акрофаціальний дизостоз, тип Кеннеді-Тібі","synonyms":["Синдром Кеннеді-Тібі"],"definition":"A rare acrofacial dysostosis due to the presence of manifestations not usually seen in Nager syndrome (NS) such as microcephaly, blepharophimosis, microtia, a peculiar beakednose, cleft lip and palate, symmetrical involvement of the thumbs and great toes and developmental delay. It has since been suggested that these features can also be a part of the NS phenotype."},"zh":{"name":"面骨发育不全，Kennedy-Teebi型","synonyms":["Kennedy-Teebi综合征"]},"tr":{"name":"Akrofasiyal dizostoz, Kennedy-Teebi tipi","synonyms":["Kennedy-Teebi sendromu"]}},"xrefs":[{"source":"ICD-10","code":"Q75.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD25.2","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"921104481"},{"source":"MONDO","code":"0018980","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4304094","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":364574,"name":"Acrofacial dysostosis","classifications":[147,156,199]},{"orpha":139036,"name":"Branchial arch or oral-acral syndrome","classifications":[147]},{"orpha":183576,"name":"Genetic branchial arch or oral-acral syndrome","classifications":[156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"15266620[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_15266620[PMID]"}],"phenotypes":null}