{"orpha":8,"name":"47,XYY syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Double Y syndrome","Jacobs syndrome","XYY syndrome","Y disomy"],"definition":"A rare sex chromosome aneuploidy where males receive an additional Y chromosome, that is characterized clinically by tall stature evident from childhood, macrocephaly, facial features (mild hypertelorism, low set ears, a mildly flat malar region), speech delay and an increased risk for social and emotional difficulties, attention deficit hyperactive disorder and autistic spectrum disorder.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-8/","orphanet_url":"https://www.orpha.net/en/disease/detail/8","names":{"fr":{"name":"Syndrome 47,XYY","synonyms":["Disomie Y","Double Y","Syndrome de Jacobs"],"definition":"Le syndrome 47, XYY est une aneuploïdie des chromosomes sexuels dans laquelle les individus de sexe masculin reçoivent un chromosome Y additionnel. Sur le plan clinique, il se manifeste par une grande taille observable dès l'enfance, une macrocéphalie, une dysmorphie faciale (hypertélorisme léger, oreilles bas implantées, région malaire légèrement plate), un retard de langage et un risque accru d'avoir des difficultés sociales et émotionnelles et de développer un trouble du déficit de l'attention avec ou sans hyperactivité et un trouble du spectre autistique."},"de":{"name":"47,XYY-Syndrom","synonyms":["Disomie Y","Jacobs-Syndrom","XYY-Syndrom","Y-Chromosom, doppeltes"],"definition":"Eine seltene Aneuploidie der Geschlechtschromosomen, bei der das männliche Geschlecht ein zusätzliches Y-Chromosom aufweist. Klinisch ist diese durch eine ab der Kindheit erkennbare große Statur, Makrozephalie, Gesichtsmerkmale (leichter Hypertelorismus, tiefsitzende Ohren, leicht flache Jochbeinregion), verzögerte Sprachentwicklung und ein erhöhtes Risiko für soziale und emotionale Schwierigkeiten, Aufmerksamkeitsdefizit-/Hyperaktivitätsstörung und Autismus-Spektrum-Störung gekennzeichnet."},"es":{"name":"Síndrome 47,XYY","synonyms":["Disomía Y","Síndrome XYY","Síndrome de Jacobs","Síndrome de doble Y"],"definition":"Es una aneuploidía de los cromosomas sexuales en la que los varones tienen un cromosoma Y adicional. Se caracteriza clínicamente por talla alta que es patente desde la infancia, macrocefalia, rasgos faciales característicos (leve hipertelorismo ocular, orejas de baja implantación, región malar ligeramente aplanada), retraso en el habla, mayor riesgo de problemas sociales y emocionales, trastorno por déficit de atención e hiperactividad y trastorno del espectro autista."},"it":{"name":"Sindrome 47,XYY","synonyms":["Disomia del cromosoma Y","Sindrome XYY","Sindrome di Jacobs","Sindrome doppio Y"],"definition":"La sindrome 47, XYY è un'aneuploidia del cromosoma sessuale, nella quale i maschi ricevono un cromosoma Y sovrannumerario; dal punto di vista clinico, è caratterizzata da alta statura evidente fin dall'infanzia, macrocefalia, dismorfismi facciali (ipertelorismo lieve, orecchie a basso impianto, regione malare lievemente appiattita), ritardo del linguaggio e rischio maggiore di difficoltà sociali ed emotive, disturbo da deficit di attenzione/iperattività e disturbo dello spettro autistico."},"nl":{"name":"47,XYY-syndroom","synonyms":["Dubbele-Y-syndroom","Syndroom van Jacobs","XYY-syndroom","Y-disomie"],"definition":"Een zeldzame aneuploïdie van geslachtschromosomen waarbij mannen een extra Y-chromosoom krijgen, klinisch gekenmerkt door grote gestalte die al duidelijk is vanaf de kindertijd, macrocefalie, gelaatskenmerken (mild hypertelorisme, laagstaande oren, mild afgeplatte jukbeenderen), spraakachterstand, en verhoogd risico op sociale en emotionele moeilijkheden, aandachtstekortstoornis met hyperactiviteit en autismespectrumstoornis."},"pt":{"name":"Síndrome 47,XYY","synonyms":["Dissomia Y","Síndrome Jacobs","Síndrome XYY","Síndrome de duplo Y"]},"pl":{"name":"Zespół 47,XYY","synonyms":["Podwójny Y","Disomia Y"],"definition":"Rzadka aneuploidia chromosomów płciowych, w której mężczyźni otrzymują dodatkowy chromosom Y, która charakteryzuje się wysokim wzrostem obserwowanym od dzieciństwa, makrocefalią, charakterystycznymi rysami twarzy (łagodny hiperteloryzm, nisko osadzone uszy, nieco płaska okolica policzkowa), opóźnieniem mowy i zwiększonym ryzykiem wystąpienia problemów emocjonalnych oraz w kontaktach społecznych, zespołu nadpobudliwości z deficytem uwagi lub zaburzeń ze spektrum autyzmu."},"cs":{"name":"Syndrom 47,XYY","synonyms":["Dizomie Y","Dvojité Y"]},"uk":{"name":"47,XYY синдром","synonyms":["Синдром подвійного Y","Синдром Джейкобса","Синдром XYY","Y дисомія"],"definition":"A rare sex chromosome aneuploidy where males receive an additional Y chromosome, that is characterized clinically by tall stature evident from childhood, macrocephaly, facial features (mild hypertelorism, low set ears, a mildly flat malar region), speech delay and an increased risk for social and emotional difficulties, attention deficit hyperactive disorder and autistic spectrum disorder."},"zh":{"name":"47，XYY综合征","synonyms":["重复Y综合征"]},"tr":{"name":"47,XYY sendromu","synonyms":["Y disomi","XYY sendromu","Çift Y sendromu"]}},"xrefs":[{"source":"ICD-10","code":"Q98.5","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"LD52.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0019339","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535317","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3266843","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5674","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10056894","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":263746,"name":"Y chromosome number anomaly syndrome","classifications":[147,156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"1-5 / 10 000","value":0.0,"area":"Denmark","status":"Not yet validated","source":"20509956[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":50.0,"area":"Europe","status":"Not yet validated","source":"22893477[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":14.1,"area":"Denmark","status":"Validated","source":"20509956[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"1-5 / 10 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"22893477[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-02-19","source":"21671976[PMID]_23695861[PMID]_6419709[PMID]_36803654[PMID]_23810129[PMID]","terms":[{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000272","label":"Malar flattening","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000098","label":"Tall stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002099","label":"Asthma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007018","label":"Attention deficit hyperactivity disorder","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007642","label":"Congenital stationary night blindness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000805","label":"Enuresis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0040019","label":"Finger clinodactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000752","label":"Hyperactivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100710","label":"Impulsivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001319","label":"Neonatal hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001763","label":"Pes planus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012760","label":"Reduced social responsiveness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001328","label":"Specific learning disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001337","label":"Tremor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002363","label":"Abnormal brainstem morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100851","label":"Abnormal emotion/affect behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000739","label":"Anxiety","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000729","label":"Autistic behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000027","label":"Azoospermia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007033","label":"Cerebellar dysplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002195","label":"Dysgenesis of the cerebellar vermis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040183","label":"Encopresis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000047","label":"Hypospadias","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000837","label":"Increased circulating gonadotropin level","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030088","label":"Increased serum testosterone level","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001572","label":"Macrodontia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000053","label":"Macroorchidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003251","label":"Male infertility","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000303","label":"Mandibular prognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000054","label":"Micropenis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000798","label":"Oligozoospermia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010865","label":"Oppositional defiant disorder","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100033","label":"Tics","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012871","label":"Varicocele","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008770","label":"Obsessive-compulsive trait","frequency":"Very rare (<4-1%)","criteria":null}]}}