{"orpha":261534,"name":"49,XXXYY syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"49,XXXYY syndrome is a rare gonosome anomaly syndrome characterized by a eunuchoid habitus with gynecoid fat distribution and shape, normal to tall stature, moderate to severe intellectual disability, distinctive facial features (e.g. prominent forehead, epicanthic folds, broad nasal bridge, prognathism), gynecomastia, hypogonadism, cryptorchidism, small penis and behavioral abnormalities (incl. solitary, passive disposition but prone to aggressive outbursts, autistic). Skeletal malformations, such as delayed bone age, fifth finger clinodactyly, elbow malformations and slow molar development, may also be associated.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-261534/","orphanet_url":"https://www.orpha.net/en/disease/detail/261534","names":{"fr":{"name":"Syndrome 49,XXXYY","definition":"Anomalie rare des gonosomes caractérisée par une morphologie eunuchoïde et une distribution et une forme gynoïde de graisse, une stature normale à grande, une déficience intellectuelle modérée à sévère, des traits faciaux distinctifs (front proéminent, épicanthus, large pont nasal, prognathisme), gynécomastie, hypogonadisme, cryptorchidie, petit pénis et troubles comportementaux (solitude, passivité, tendance à l'agressivité, comportement de type autistique). Des malformations squelettiques, à savoir retard de l'âge osseux, clinodactylie du 5<sup>e</sup> doigt, malformations du coude et développement lent des molaires, peuvent également être associées."},"de":{"name":"49,XXXYY-Syndrom"},"es":{"name":"Síndrome 49,XXXYY","definition":"Es un síndrome poco frecuente de alteración de los gonosomas, caracterizado por un hábito eunucoide con distribución de la grasa corporal y forma ginecoides, estatura de normal a alta, discapacidad intelectual de moderada a severa, rasgos faciales distintivos (p. ej., frente prominente, pliegues epicánticos, puente nasal ancho, prognatismo), ginecomastia, hipogonadismo, criptorquidia, pene pequeño y trastornos de conducta (incl. personalidad solitaria y pasiva pero propensa a arrebatos de agresividad, autismo). También presentan anomalías esqueléticas, tales como retraso de la edad ósea, clinodactilia del 5º dedo, anomalías del codo y desarrollo molar lento."},"it":{"name":"Sindrome 49,XXXYY","definition":"La sindrome 49,XXXYY è un'anomalia gonosomica rara, caratterizzata da habitus eunucoide con distribuzione del grasso e forma del corpo ginoide, statura normale o alta, disabilità intellettiva moderata-grave, dismorfismi facciali caratteristici (ad esempio fronte prominente, epicanto, sella nasale ampia, prognatismo), ginecomastia, ipogonadismo, criptorchidismo, micropene e anomalie del comportamento (atteggiamento isolato e passivo, con tendenza a crisi di aggressività e tratti autistici). I pazienti possono presentare anomalie scheletriche, come il ritardo dell'età ossea, la clinodattilia del quinto dito, le malformazioni del gomito e il ritardo dello sviluppo dei molari."},"nl":{"name":"49,XXXYY-syndroom","definition":"49,XXXYY syndroom is een zeldzaam syndroom met een anomalie van gonosomen, en wordt gekarakteriseerd door eunuchoïde habitus met gynecoïde vetverdeling en vorm, normale tot grote gestalte, matige tot ernstige intellectuele achterstand, typische gelaatskenmerken (e.g. prominent voorhoofd, epicanthusplooien, brede neusbrug, prognathie), gynaecomastie, hypogonadisme, cryptorchidie, kleine penis en gedragsafwijkingen (inclusief solitair, passief karakter maar vatbaar voor agressieve uitbarstingen, autistisch). Skeletmalformaties, zoals vertraagde botmaturatie, clinodactylie van de vijfde vinger, malformaties van de elleboog en trage ontwikkeling van kiezen, kunnen ook geassocieerd zijn."},"pt":{"name":"Síndrome 49,XXXYY"},"pl":{"name":"Zespół 49,XXXYY","definition":"*Zespół 49,XXXYY jest rzadką aberracją chromosomów płci (gonosomów), która charakteryzuje się eunuchoidalną budową ciała, rozkładem tkanki tłuszczowej charakterystycznym dla płci żeńskiej, prawidłowym lub wysokim wzrostem, umiarkowaną lub ciężką niepełnosprawnością intelektualną, charakterystycznymi rysami twarzy (wydatne czoło, zmarszczki nakątne, szeroki grzbiet nosa, prognatyzm), ginekomastią, hipogonadyzmem, wnętrostwem, małym prąciem i zaburzeniami zachowania (samotnictwo, pasywne usposobienie, skłonność do wybuchów agresji, zachowania autystyczne). Mogą towarzyszyć wady układu kostnego, takie jak opóźniony wiek kostny, klinodaktylia piątych palców, wady rozwojowe łokci i powolny rozwój zębów trzonowych."},"cs":{"name":"49,XXXYY syndrom"},"uk":{"name":"Синдром 49,XXXYY","definition":"49,XXXYY syndrome is a rare gonosome anomaly syndrome characterized by a eunuchoid habitus with gynecoid fat distribution and shape, normal to tall stature, moderate to severe intellectual disability, distinctive facial features (e.g. prominent forehead, epicanthic folds, broad nasal bridge, prognathism), gynecomastia, hypogonadism, cryptorchidism, small penis and behavioral abnormalities (incl. solitary, passive disposition but prone to aggressive outbursts, autistic). Skeletal malformations, such as delayed bone age, fifth finger clinodactyly, elbow malformations and slow molar development, may also be associated."},"zh":{"name":"49,XXXYY综合征","definition":"49，XXXYY综合征是一种罕见的性染色体异常综合征，其特征是具有女性脂肪的分布和形状特征的类无睾者体质，正常到高身材，中度到严重的智力障碍，明显的面部特征(如突出的额头，内眦赘皮，宽阔的鼻梁，颌突)，乳房女性化，性腺功能减退，隐睾，小阴茎和行为异常(包括孤僻、消极的性格，但容易爆发攻击性情绪，自闭症)。骨骼畸形，如骨龄延迟、第五指斜指畸形、肘部畸形和磨牙发育缓慢，也可能与此相关。"},"tr":{"name":"49, XXXYY sendromu"}},"xrefs":[{"source":"ICD-10","code":"Q98.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0016854","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4749586","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10922","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":263749,"name":"X and Y chromosomal anomaly syndrome","classifications":[147,156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"3697588[PMID]_14015109[PMID]"},{"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":"2015-12-28","source":"7199254[PMID]_7567329[PMID]_3697588[PMID]_7156028[PMID]_4838894[PMID]_8546146[PMID]_2090319[PMID]_14015109[PMID]","terms":[{"hpo":"HP:0002500","label":"Abnormal cerebral white matter morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010506","label":"Abnormal plantar dermatoglyphics","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0045058","label":"Abnormality of the testis size","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000062","label":"Ambiguous genitalia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000729","label":"Autistic behavior","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001776","label":"Bilateral talipes equinovarus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0040171","label":"Decreased serum testosterone concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008734","label":"Decreased testicular size","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002750","label":"Delayed skeletal maturation","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:0000286","label":"Epicanthus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003782","label":"Eunuchoid habitus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003241","label":"External genital hypoplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0040019","label":"Finger clinodactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000771","label":"Gynecomastia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000837","label":"Increased circulating gonadotropin level","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","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:0000303","label":"Mandibular prognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000054","label":"Micropenis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011343","label":"Moderate global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000774","label":"Narrow chest","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008193","label":"Primary gonadal insufficiency","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011220","label":"Prominent forehead","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:0002119","label":"Ventriculomegaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Very frequent (99-80%)","criteria":null}]}}