{"orpha":808,"name":"Seckel syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare microcephalic primordial dwarfism characterized by severe proportionate short stature of prenatal onset, primary microcephaly, distinctive facial features, and mild to severe intellectual disability.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-808/","orphanet_url":"https://www.orpha.net/en/disease/detail/808","names":{"fr":{"name":"Syndrome de Seckel","definition":"Nanisme microcéphalique primordial caractérisé par une forme sévère de petite taille proportionnée d'origine prénatale, une microcéphalie primaire, une dysmorphie faciale caractéristique et une déficience intellectuelle légère à sévère."},"de":{"name":"Seckel-Syndrom","definition":"Ein seltene Form des mikrozephalen Kleinwuches mit pränatalem Beginn, der mit primärer Mikrozephalie, ausgeprägten Gesichtszügen und leichter bis schwerer Intelligenzminderung einhergeht."},"es":{"name":"Síndrome de Seckel","definition":"Es una forma poco frecuente de talla baja extrema primordial microcefálica caracterizada por un talla baja extrema proporcionada de inicio prenatal, microcefalia grave, rasgos faciales dismórficos característicos (semejante a la de un pájaro) y discapacidad intelectual de leve a grave."},"it":{"name":"Sindrome di Seckel"},"nl":{"name":"Syndroom van Seckel","definition":"Een zeldzame microcefale primordiale dwerggroei, gekenmerkt door proportioneel kleine gestalte met prenatale aanvang, primaire microcefalie, typische gelaatskenmerken, en milde tot ernstige intellectuele achterstand."},"pt":{"name":"Síndrome Seckel","synonyms":["Nanismo cabeça de pássaro"],"definition":"Forma rara de nanismo primordial microcefálico caracterizada por baixa estatura proporcional grave com início pré-natal, microcefalia primária, características faciais distintas e perturbação do desenvolvimento intelectual ligeira a grave."},"pl":{"name":"Zespół Seckela"},"cs":{"name":"Seckelův syndrom"},"uk":{"name":"Синдром Секеля","definition":"A rare form of microcephalic primordial dwarfism characterized by a proportionate dwarfism of prenatal onset, a severe microcephaly, a typical dysmorphic face (bird-like), and mild to severe intellectual disability."},"zh":{"name":"Seckel综合征"},"tr":{"name":"Seckel sendromu"}},"xrefs":[{"source":"OMIM","code":"210600","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"606744","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613676","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613823","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614728","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614851","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615807","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616777","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617253","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617523","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"620767","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.1","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"LD24.D","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"952199295"},{"source":"MONDO","code":"0019342","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537533","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0265202","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"8562","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":324761,"name":"Microcephalic primordial dwarfism","classifications":[147,156,181]},{"orpha":93440,"name":"Slender bone dysplasia","classifications":[147,156,199]}],"children":[],"genes":[{"symbol":"PCNT","name":"pericentrin","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"19643772[PMID]","hgnc":"16068","ensembl":"ENSG00000160299","omim":"605925","loci":["21q22.3"]},{"symbol":"PLK4","name":"polo like kinase 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"25344692[PMID]_25320347[PMID]","hgnc":"11397","ensembl":"ENSG00000142731","omim":"605031","loci":["4q28.1"]},{"symbol":"TRAIP","name":"TRAF interacting protein","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) 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000","value":10.0,"area":"Worldwide","status":"Validated","source":"34345934[PMID]_ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.2,"area":"Europe","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2005-2012[OTHER]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0004326","label":"Cachexia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000444","label":"Convex nasal ridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001363","label":"Craniosynostosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002750","label":"Delayed skeletal 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