{"orpha":529965,"name":"Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Pilarowski-Bjornsson syndrome"],"definition":"A rare, syndromic intellectual disability characterized by developmental delay, speech apraxia, autism with stereotypies, intellectual disability and unspecific dysmorphic facial features. Seizures or isolated EEG abnormalities may also be associated.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-529965/","orphanet_url":"https://www.orpha.net/en/disease/detail/529965","names":{"fr":{"name":"Syndrome de déficience intellectuelle-autisme-apraxie de la parole-dysmorphie craniofaciale","synonyms":["Syndrome de Pilarowski-Bjornsson"],"definition":"Déficience intellectuelle syndromique rare caractérisée par un retard de développement, une apraxie verbale, un autisme avec stéréotypies, une déficience intellectuelle et une dysmorphie faciale non spécifique. La maladie peut être associée à des crises convulsives ou à des anomalies isolées EEG."},"de":{"name":"Intelligenzminderung-Autismus-Sprachapraxie-kraniofaziale Dysmorphie-Syndrom","synonyms":["Pilarowski-Bjornsson-Syndrom"],"definition":"Eine syndromale Form der Intelligenzminderung, die durch Entwicklungsverzögerung, Sprechapraxie, Autismus mit Stereotypien, Intelligenzminderung und unspezifische Gesichtsdysmorphien gekennzeichnet ist. Krampfanfälle oder isolierte EEG-Anomalien können ebenfalls auftreten."},"es":{"name":"Síndrome de discapacidad intelectual-autismo-apraxia del habla-dismorfia craneofacial","synonyms":["Síndrome de Pilarowski-Bjornsson"],"definition":"Es una discapacidad intelectual sindrómica poco frecuente caracterizada por retraso del desarrollo, apraxia del habla, autismo con estereotipias, discapacidad intelectual y rasgos faciales dismórficos inespecíficos. También pueden asociar crisis o anomalías aisladas en el EEG."},"it":{"name":"Sindrome disabilità intellettiva - autismo - aprassia verbale - dismorfismi craniofacciali","definition":"Si tratta di una disabilità intellettiva sindromica rara, caratterizzata da ritardo dello sviluppo, aprassia verbale, autismo con stereotipie, disabilità intellettiva e dismorfismi facciali aspecifici. I pazienti possono presentare anche crisi epilettiche o anomalie isolate dell'EEG."},"nl":{"name":"Intellectuele achterstand - autisme - spraakapraxie - craniofaciale dysmorfie-syndroom","synonyms":["Syndroom van Pilarowski-Bjornsson"],"definition":"Een zeldzame, syndromale intellectuele achterstand, gekarakteriseerd door ontwikkelingsachterstand, spraakapraxie, autisme met stereotypie, intellectuele achterstand en aspecifieke dysmorfe gelaatskenmerken. Insulten of geïsoleerde EEG-afwijkingen kunnen ook geassocieerd zijn."},"pt":{"name":"Síndrome de perturbação do desenvolvimento intelectual-autismo-apraxia de discurso-dismorfia craniofacial"},"pl":{"name":"Zespół niepełnosprawności intelektualnej, autyzmu, apraksji mowy i dysmorfii twarzoczaszkowej","synonyms":["Zespół Pilarowskiegi i Bjornssona"]},"cs":{"name":"Syndrom zahrnující mentální retardaci, autismus, řečovou apraxii a kraniofaciální dysmorfismus","synonyms":["Pilarowské-Bjornssonův syndrom","Pilarowski-Bjornssonův syndrom"]},"uk":{"name":"Синдром інтелектуальної недостатності-аутизму-апраксії мовлення-черепно-лицевого дисморфізму","synonyms":["Синдром Піларовського-Бьорнссона"],"definition":"A rare, syndromic intellectual disability characterized by developmental delay, speech apraxia, autism with stereotypies, intellectual disability and unspecific dysmorphic facial features. Seizures or isolated EEG abnormalities may also be associated."},"zh":{"name":"智力障碍-自闭症-言语失用症-颅面畸形综合征","synonyms":["Pilarowski-Bjornsson综合征"],"definition":"一种罕见的综合症性智力障碍，其特征是发育迟缓、言语失用、自闭症伴有刻板举动、智力障碍和不特定的面部畸形特征。也可能与癫痫发作或孤立性脑电图异常有关。"},"tr":{"name":"Zihinsel yetersizlik-otizm-konuşma apraksi-kraniyofasiyal dismorfizm sendromu","synonyms":["Pilarowski-Bjornsson sendromu"]}},"xrefs":[{"source":"OMIM","code":"617682","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0060568","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4540131","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10090383","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]}],"children":[],"genes":[{"symbol":"CHD1","name":"chromodomain helicase DNA binding protein 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"28866611[PMID]","hgnc":"1915","ensembl":"ENSG00000153922","omim":"602118","loci":["5q15-q21.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"28866611[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_28866611[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-03-18","source":"28866611[PMID]","terms":[{"hpo":"HP:0001290","label":"Generalized hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012393","label":"Allergy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007874","label":"Almond-shaped palpebral fissure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010648","label":"Dermal translucency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011800","label":"Midface retrusion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000307","label":"Pointed chin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011098","label":"Speech apraxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000574","label":"Thick eyebrow","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001211","label":"Abnormal fingertip morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000733","label":"Abnormal repetitive mannerisms","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000729","label":"Autistic behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002721","label":"Immunodeficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008897","label":"Postnatal growth retardation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null}]}}