{"orpha":1094,"name":"Anonychia-microcephaly syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Teebi-Kaurah syndrome"],"definition":"A multiple congenital anomaly disorder characterized by anonychia congenita totalis and microcephaly, and normal intelligence along with some minor anomalies including single transverse palmar creases, fifth-finger clinodactyly and widely-spaced teeth.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1094/","orphanet_url":"https://www.orpha.net/en/disease/detail/1094","names":{"fr":{"name":"Syndrome d'anonychie-microcéphalie","synonyms":["Syndrome de Teebi-Kaurah"],"definition":"Le syndrome d'anonychie-microcéphalie est un trouble d'anomalies congénitales multiples caractérisé par une anonychie congénitale totale et une microcéphalie, associées à des anomalies mineures incluant des sillons palmaires transverses uniques, une clinodactylie du cinquième doigt et des dents largement espacées. Il n'y a pas de déficit intellectuel."},"de":{"name":"Anonychie-Mikrozephalie-Syndrom","synonyms":["Teebi-Kaurah-Syndrom"]},"es":{"name":"Síndrome de anoniquia-microcefalia","synonyms":["Síndrome de Teebi-Kaurah"],"definition":"Es un trastorno de anomalías congénitas múltiples caracterizado por anoniquia total congénita y microcefalia e inteligencia normal junto con algunas anomalías menores que incluyen pliegues palmares transversales, clinodactilia del dedo meñique y dientes ampliamente espaciados."},"it":{"name":"Anonichia - microcefalia","synonyms":["Sindrome di Teebi-Kaurah"],"definition":"La sindrome anonichia-microcefalia è una malattia da anomalie congenite multiple, caratterizzata da anonichia congenita totale e microcefalia con intelligenza normale, associate a difetti minori come la linea delle quattro dita su entrambe le mani, la clinodattilia del quinto dito e l'aumento della distanza tra i denti."},"nl":{"name":"Anonychie - microcefalie-syndroom","synonyms":["Syndroom van Teebi-Kaurah"],"definition":"Een aandoening met multipele congenitale anomalieën, gekarakteriseerd door anonychia congenita totalis en microcefalie, en normale intelligentie, naast enkele kleine anomalieën, waaronder enkelvoudige transversale handlijn op de handpalm, clinodactylie van vijfde vinger, en ver uit elkaar staande tanden."},"pt":{"name":"Síndrome de anoníquia-microcefalia","synonyms":["Síndrome Teebi-Kaurah"]},"pl":{"name":"Brak paznokci - mikrocefalia","synonyms":["Zespół Teebiego i Kauraha"]},"cs":{"name":"Syndrom zahrnující anonychii a mikrocefalii","synonyms":["Teebiho-Kaurahův syndrom","Teebi-Kaurahův syndrom"]},"uk":{"name":"Синдром аноніхії-мікроцефалії","synonyms":["Синдром Тібі-Каури"],"definition":"A multiple congenital anomaly disorder characterized by anonychia congenita totalis and microcephaly, and normal intelligence along with some minor anomalies including single transverse palmar creases, fifth-finger clinodactyly and widely-spaced teeth."},"zh":{"name":"甲缺如-小头畸形综合征","synonyms":["Teebi-Kaurah综合征"]},"tr":{"name":"Anonişi-mikrosefali sendromu","synonyms":["Teebi-Kaurah sendromu"]}},"xrefs":[{"source":"OMIM","code":"607214","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0011795","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536948","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931373","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"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":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"8985482[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_8985482[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001798","label":"Anonychia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010624","label":"Aplastic/hypoplastic toenail","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000164","label":"Abnormality of the dentition","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007598","label":"Bilateral single transverse palmar creases","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000670","label":"Carious teeth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000340","label":"Sloping forehead","frequency":"Occasional (29-5%)","criteria":null}]}}