{"orpha":210548,"name":"Macrocephaly-intellectual disability-autism syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare, genetic, neurological disease characterized by association of macrocephaly, dysmorphic facial features and psychomotor delay leading to intellectual disability and autism spectrum disorder. Facial dysmorphism may include frontal bossing, hypertelorism, midface hypoplasia, depressed nasal bridge, short nose, and long philtrum.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-210548/","orphanet_url":"https://www.orpha.net/en/disease/detail/210548","names":{"fr":{"name":"Syndrome de macrocéphalie-déficience intellectuelle-autisme","definition":"Maladie neurologique génétique rare caractérisée par l'association d'une macrocéphalie, d'une dysmorphie faciale et d'un retard psychomoteur conduisant à une déficience intellectuelle et à des troubles du spectre de l'autisme. La dysmorphie faciale peut inclure une saillie des bosses frontales, un hypertélorisme, une hypoplasie de l'étage moyen du visage, un pont nasal déprimé, un nez court et un philtrum long."},"de":{"name":"Makrozephalie-Intelligenzminderung-Autismus-Syndrom"},"es":{"name":"Síndrome de macrocefalia-discapacidad intelectual-autismo","definition":"Es una enfermedad neurológica genética y poco frecuente caracterizada por la asociación de macrocefalia, rasgos faciales dismorficos y retraso psicomotor que conlleva a discapacidad intelectual y trastorno del espectro autista. La dismorfia facial puede incluir prominencia frontal, hipertelorismo, hipoplasia mediofacial, puente nasal deprimido, nariz corta y filtrum largo."},"it":{"name":"Sindrome da macrocefalia, disabilità intellettiva, autismo","definition":"È una malattia neurologica rara di origine genetica, che associa macrocefalia, dismorfismi facciali e ritardo psicomotorio, ed esita nella disabilità intellettiva e nei disturbi dello spettro autistico. I dismorfismi facciali comprendono la fronte prominente, l'ipertelorismo, l'ipoplasia medio-facciale, la sella nasale infossata, il naso corto e il filtro lungo."},"nl":{"name":"Macrocefalie - intellectuele achterstand - autisme-syndroom","definition":"Een zeldzame, genetische, neurologische ziekte die gekarakteriseerd wordt door associatie van macrocefalie, dysmorfe gelaatskenmerken en psychomotorische achterstand met intellectuele beperking en autismespectrumstoornis tot gevolg. Faciale dysmorfie omvat mogelijk boller voorhoofd, hypertelorisme, hypoplasie van het middengezicht, ingezakte neusbrug, korte neus, en lang filtrum."},"pt":{"name":"Síndrome de macrocefalia-perturbação do desenvolvimento intelectual-autismo"},"pl":{"name":"Zespół wielkogłowie-autyzm"},"cs":{"name":"Syndrom zahrnující makrocefalii, mentální retardaci a autismus"},"uk":{"name":"Синдром макроцефалії-інтелектуальної недостатності-аутизму","definition":"A rare, genetic, neurological disease characterized by association of macrocephaly, dysmorphic facial features and psychomotor delay leading to intellectual disability and autism spectrum disorder. Facial dysmorphism may include frontal bossing, hypertelorism, midface hypoplasia, depressed nasal bridge, short nose, and long philtrum."},"zh":{"name":"大头畸形-智力障碍-自闭症综合征","definition":"巨颅畸形-智力障碍-自闭症综合征是一种罕见的遗传性神经系统疾病，其主要临床表现为巨头畸形、面部畸形和精神运动迟缓，导致智力障碍和自闭症。面部畸形包括额凸、眼距过宽、面中部发育不全、鼻梁凹陷、短鼻、长人中。"},"tr":{"name":"Makrosefali-zihinsel yetersizlik-otizm sendromu"}},"xrefs":[{"source":"OMIM","code":"605309","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"613926","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"UMLS","code":"C5190809","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":269564,"name":"Genetic syndrome with a central nervous system malformation as a major feature","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":269531,"name":"Other syndrome with a central nervous system malformation as a major feature","classifications":[147,181]},{"orpha":180772,"name":"Rare disease with autism","classifications":[156,181]}],"children":[],"genes":[{"symbol":"HEPACAM","name":"hepatic and glial cell adhesion molecule","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21419380[PMID]","hgnc":"26361","ensembl":"ENSG00000165478","omim":"611642","loci":["11q24.2"]},{"symbol":"PTEN","name":"phosphatase and tensin homolog","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"15805158[PMID]_17286265[PMID]_19265751[PMID]","hgnc":"9588","ensembl":"ENSG00000171862","omim":"601728","loci":["10q23.31"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":40.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2023-01-05","source":"17286265[PMID]_17427195[PMID]_21960672[PMID]_34268892[PMID]","terms":[{"hpo":"HP:0000729","label":"Autistic behavior","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000957","label":"Cafe-au-lait spot","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200008","label":"Intestinal polyposis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001012","label":"Multiple lipomas","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001054","label":"Numerous nevi","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031447","label":"Penile freckling","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007018","label":"Attention deficit hyperactivity disorder","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001829","label":"Foot polydactyly","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001397","label":"Hepatic steatosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0006781","label":"Hurthle cell thyroid adenoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0032203","label":"Lymphoid nodular hyperplasia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0011800","label":"Midface retrusion","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001177","label":"Preaxial hand polydactyly","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0003196","label":"Short nose","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002890","label":"Thyroid carcinoma","frequency":"Very rare (<4-1%)","criteria":null}]}}