{"orpha":77301,"name":"Monosomy 9q22.3 syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Microdeletion 9q22.3"],"definition":"Interstitial 9q22.3 microdeletion is associated with a phenotype including macrocephaly, overgrowth and trigonocephaly. Psychomotor delay, hyperactivity and distinctive facial features were also observed. It has been described in two unrelated children.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-77301/","orphanet_url":"https://www.orpha.net/en/disease/detail/77301","names":{"fr":{"name":"Syndrome de monosomie 9q22.3","synonyms":["Microdélétion 9q22.3"],"definition":"La microdélétion interstitielle 9q22.3, identifiée chez deux enfants non apparentés, est associée à un phénotype incluant macrocéphalie, grande taille et trigonocéphalie. Un retard psychomoteur, une hyperactivité et une apparence faciale particulière sont également observés."},"de":{"name":"Mikrodeletionssyndrom 9q22.3","definition":"Zu den klinischen Zeichen der interstitiellen Mikrodeletion 9q22.3 gehören Makrozephalie, verstärktes Wachstum und Trigonozephalie. Weitere Symptome des bei zwei nicht verwandten Kindern beschriebenen Syndroms waren psychomotorische Retardierung, hyperaktives Verhalten und auffällige Gesichtsmerkmale."},"es":{"name":"Síndrome de monosomía 9q22.3","synonyms":["Microdeleción 9q22.3"],"definition":"La microdeleción intersticial 9q22.3 está asociada con un fenotipo caracterizado por macrocefalia, sobrecrecimiento y trigonocefalia. También se ha observado retraso psicomotor, hiperactividad y rasgos faciales distintivos. Se ha descrito en dos niños no emparentados."},"it":{"name":"Sindrome monosomia 9q22.3","synonyms":["Microdelezione 9q22.3"]},"nl":{"name":"Monosomie 9q22.3-syndroom","synonyms":["Microdeletie 9q22.3"],"definition":"Interstitiële 9q22.3-microdeletie is geassocieerd met een fenotype bestaande uit macrocefalie, overgroei, en trigonocefalie. Psychomotorische achterstand, hyperactiviteit en typische gelaatskenmerken werden ook waargenomen. Het werd beschreven bij twee niet-verwante kinderen."},"pt":{"name":"Microdeleção 9q22.3"},"pl":{"name":"Zespół monosomii 9q22.3","synonyms":["Mikrodelecja 9q22.3"]},"cs":{"name":"Monozomie 9q22.3","synonyms":["Mikrodelece 9q22.3"]},"uk":{"name":"Моносомія 9q22.3","synonyms":["Мікроделеція 9q22.3"],"definition":"Interstitial 9q22.3 microdeletion is associated with a phenotype including macrocephaly, overgrowth and trigonocephaly. Psychomotor delay, hyperactivity and distinctive facial features were also observed. It has been described in two unrelated children."},"zh":{"name":"9q22.3单倍体","synonyms":["9q22.3微缺失"]},"tr":{"name":"Monozomi 9q22.3","synonyms":["Mikrodelesyon 9q22.3"]}},"xrefs":[{"source":"ICD-10","code":"Q93.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD44.90","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"17584690"},{"source":"MONDO","code":"0019179","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C579873","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3711390","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":262074,"name":"Partial deletion of the long arm of chromosome 9 syndrome","classifications":[147,156]},{"orpha":98683,"name":"Syndromic disorder with strabismus","classifications":[189]},{"orpha":522520,"name":"Syndromic genetic disorder with strabismus","classifications":[156]}],"children":[],"genes":[{"symbol":"PTCH1","name":"patched 1","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"23169491[PMID]","hgnc":"9585","ensembl":"ENSG00000185920","omim":"601309","loci":["9q22.32"]}],"genes_via_subtypes":[],"inheritance":["Not applicable","Unknown"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":42.0,"area":"Worldwide","status":"Validated","source":"21850767[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_21850767[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":"21850767[PMID]_17019435[PMID]","terms":[{"hpo":"HP:0000772","label":"Abnormal rib morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000925","label":"Abnormality of the vertebral column","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002671","label":"Basal cell carcinoma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005462","label":"Calcification of falx cerebri","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010617","label":"Cardiac fibroma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000752","label":"Hyperactivity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001520","label":"Large for gestational age","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002885","label":"Medulloblastoma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011330","label":"Metopic synostosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000568","label":"Microphthalmia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000160","label":"Narrow mouth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010603","label":"Odontogenic keratocysts of the jaw","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000202","label":"Orofacial cleft","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010618","label":"Ovarian fibroma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010610","label":"Palmar pits","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000767","label":"Pectus excavatum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010612","label":"Plantar pits","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000488","label":"Retinopathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000098","label":"Tall stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000243","label":"Trigonocephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001537","label":"Umbilical hernia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005616","label":"Accelerated skeletal maturation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002308","label":"Chiari malformation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000684","label":"Delayed eruption of teeth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002808","label":"Kyphosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010442","label":"Polydactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003196","label":"Short nose","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009894","label":"Thickened ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002667","label":"Nephroblastoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002859","label":"Rhabdomyosarcoma","frequency":"Occasional (29-5%)","criteria":null}]}}