{"orpha":99329,"name":"48,XYYY syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare Y chromosome number anomaly that affects only males and is characterized by mild-moderate developmental delay (especially speech), normal to mild intellectual disability, large, irregular teeth with poor enamel, tall stature and acne. Radioulnar synostosis and clinodactyly have also been associated. Boys generally present normal genitalia, while hypogonadism and infertility is frequently reported in adult males.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-99329/","orphanet_url":"https://www.orpha.net/en/disease/detail/99329","names":{"fr":{"name":"Syndrome 48,XYYY","definition":"Le syndrome 48,XYYY est une anomalie rare du nombre de chromosome Y affectant uniquement les individus masculins. Il se caractérise par un retard de développement léger à modéré (surtout au niveau de la parole), un déficit intellectuel léger ou absent, des dents larges, irrégulières avec un émail hypoplasique, une grande taille et de l'acné. Une sténose radio-ulnaire et une clinodactylie peuvent aussi être associées. Habituellement, les garçons présentent des organes génitaux normaux, tandis qu'un hypogonadisme et une infertilité sont souvent rapportés chez les hommes adultes."},"de":{"name":"48,XYYY-Syndrom","definition":"Eine seltene Anomalie der Y-Chromosomenzahl, die nur Männer betrifft und durch eine leichte bis mittelschwere Entwicklungsverzögerung (vor allem beim Sprechen), normale bis leichte Intelligenzminderung, große, unregelmäßige Zähne mit schlechtem Zahnschmelz, Hochwuchs und Akne gekennzeichnet ist. Radioulnar-Synostose und Klinodaktylie sind ebenfalls assoziiert worden. Jungen weisen im Allgemeinen normale Genitalien auf, während bei erwachsenen Männern häufig über Hypogonadismus und Unfruchtbarkeit berichtet wird."},"es":{"name":"Síndrome 48,XYYY","definition":"Es una anomalía poco frecuente del número de cromosomas Y que afecta exclusivamente a los varones. Se caracteriza por un retraso de leve a moderado del desarrollo (especialmente del habla), mostrando discapacidad intelectual de normal a leve, dientes grandes e irregulares con esmalte fino, estatura elevada y acné. También se ha asociado a sinostosis radioulnar y clinodactilia. Por lo general, los niños presentan unos genitales normales, mientras que en varones adultos se han descrito con frecuencia la infertilidad e hipogonadismo."},"it":{"name":"48,XYYY","definition":"La sindrome 48,XYYY è un'aneuploidia rara del cromosoma Y che colpisce solo i maschi; è caratterizzata da ritardo dello sviluppo lieve-moderato (soprattutto del linguaggio), intelligenza normale o disabilità intellettiva lieve, denti grandi ed irregolari con smalto iposviluppato, alta statura ed acne. Possono essere presenti anche sinostosi radio-ulnare e clinodattilia. Di solito i ragazzi presentano genitali normali, mentre negli adulti si osservano spesso ipogonadismo ed infertilità."},"nl":{"name":"48,XYYY-syndroom","definition":"Een zeldzame afwijking van het aantal Y-chromosomen die enkel mannen treft en gekarakteriseerd wordt door milde tot matige ontwikkelingsachterstand (vooral de spraak), normale tot mild beperkte intelligentie, grote en onregelmatige tanden met pover tandglazuur, grote gestalte en acne. Radio-ulnaire synostose en clinodactylie werden ook reeds geassocieerd. Jongens vertonen normale genitaliën, terwijl bij volwassen mannen regelmatig hypogonadisme en onvruchtbaarheid wordt gerapporteerd."},"pt":{"name":"Síndrome 48,XYYY"},"pl":{"name":"Zespół 48,XYYY"},"cs":{"name":"48,XYYY syndrom"},"uk":{"name":"48,XYYY синдром","definition":"A rare Y chromosome number anomaly that affects only males and is characterized by mild-moderate developmental delay (especially speech), normal to mild intellectual disability, large, irregular teeth with poor enamel, tall stature and acne. Radioulnar synostosis and clinodactyly have also been associated. Boys generally present normal genitalia, while hypogonadism and infertility is frequently reported in adult males."},"zh":{"name":"48，XYYY综合征","definition":"48,XYYY综合征是一种罕见的Y染色体数目异常疾病，只影响男性，其特征有轻到中度发育迟缓(尤其是言语)，智力正常或轻度智力障碍，大而不规则的牙齿伴釉质受损，身材高大和痤疮。桡尺关节融合和斜指畸形也与此病相关。未成年男性患者通常表现出正常的生殖器，而成年男性患者经常有性腺功能减退和不育的病例报道。"},"tr":{"name":"48, XYYY sendromu"}},"xrefs":[{"source":"ICD-10","code":"Q98.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0020469","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4518082","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"11985","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":98313,"name":"Male infertility due to gonadal dysgenesis","classifications":[156,201]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":165707,"name":"Syndromic urogenital tract malformation","classifications":[147,156,185]},{"orpha":263746,"name":"Y chromosome number anomaly syndrome","classifications":[147,156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":10.0,"area":"Worldwide","status":"Validated","source":"28137251[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_28137251[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2015-12-28","source":"7604847[PMID]_1296523[PMID]_14283740[PMID]","terms":[{"hpo":"HP:0007477","label":"Abnormal dermatoglyphics","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001760","label":"Abnormal foot morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012210","label":"Abnormal renal morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001061","label":"Acne","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000718","label":"Aggressive behavior","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002099","label":"Asthma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000027","label":"Azoospermia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003083","label":"Dislocated radial head","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006297","label":"Enamel hypoplasia","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:0000218","label":"High palate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100710","label":"Impulsivity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006316","label":"Irregularly spaced teeth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000744","label":"Low frustration tolerance","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000026","label":"Male hypogonadism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001763","label":"Pes planus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008193","label":"Primary gonadal insufficiency","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002974","label":"Radioulnar synostosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002788","label":"Recurrent upper respiratory tract infections","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000098","label":"Tall stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000179","label":"Thick lower lip vermilion","frequency":"Very frequent (99-80%)","criteria":null}]}}