{"orpha":99330,"name":"49,XYYYY syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare Y chromosome number anomaly with a variable phenotype mainly characterized by moderate to severe intellectual disability, speech delay, hypotonia, and mild dysmorphic features, including facial asymmetry, hypertelorism, bilateral low set 'lop' ears, and micrognatia. Skeletal abnormalities (such as skull deformities, radioulnar synostosis, elbow flexion, clinodactyly, brachydactyly) and behavourial problems have also been associated with this condition. Genitalia are normal at birth, although hypogonadism and azoospermia has been reported in adults.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-99330/","orphanet_url":"https://www.orpha.net/en/disease/detail/99330","names":{"fr":{"name":"Syndrome 49,XYYYY","definition":"Anomalie rare du nombre de chromosomes Y. Son phénotype est variable et se caractérise principalement par un déficit intellectuel modéré à sévère, un retard de la parole, une hypotonie et une légère dysmorphie faciale incluant une asymétrie faciale, un hypertélorisme, des oreilles basses implantées et pendantes, et une micrognathie. Des anomalies squelettiques (déformations crâniennes, synostose radio-ulnaire, flexion du coude, clinodactylie, brachydactylie) et des troubles du comportement sont aussi associés au syndrome. Les organes génitaux sont normaux à la naissance, bien qu'un hypogonadisme et une azoospermie soient rapportées chez l'adulte."},"de":{"name":"49,XYYYY-Syndrom","definition":"Eine seltene Anomalie der Y-Chromosomenzahl mit einem variablen Phänotyp, der hauptsächlich durch mäßige bis schwere Intelligenzminderung, Sprachverzögerung, Hypotonie und milde dysmorphe Merkmale, einschließlich Gesichtsasymmetrie, Hypertelorismus, bilaterale tief angesetzte \"Lop\"-Ohren und Mikrognathie gekennzeichnet ist. Skelettanomalien (wie z. B. Schädeldeformitäten, Radioulnarsynostose, Ellenbogenbeugung, Klinodaktylie, Brachydaktylie) und Verhaltensprobleme wurden ebenfalls mit dieser Erkrankung in Verbindung gebracht. Die Genitalien sind bei der Geburt normal, obwohl bei Erwachsenen über Hypogonadismus und Azoospermie berichtet wurde."},"es":{"name":"Síndrome 49,XYYYY","definition":"Es una anomalía numérica del cromosomas Y poco frecuente con un fenotipo variable caracterizado principalmente por discapacidad intelectual de moderada a grave, retraso del habla, hipotonía y características dismórficas leves, incluyendo asimetría facial, hipertelorismo, orejas de implantación baja bilateral y micrognatia. También se han asociado con esta condición anomalías esqueléticas (tales como deformidades del cráneo, sinostosis radioulnar, anomalías en la flexión del codo, clinodactilia, braquidactilia) y trastornos de la conducta. Los genitales son normales al nacer, pero se ha descrito hipogonadismo y azoospermia en adultos."},"it":{"name":"49,XYYYY","definition":"La sindrome 49,XYYYY è un'aneuploidia del cromosoma Y, che si associa ad un quadro clinico variabile, caratterizzato per lo più da disabilità intellettiva moderata-grave, ritardo del linguaggio, ipotonia e dismorfismi facciali lievi, che comprendono asimmetria del volto, ipertelorismo, orecchie basse ad ansa e micrognatia. Si possono associare anche anomalie scheletriche (deformità del cranio, sinostosi radio-ulnare, flessione del gomito, clinodattilia e brachidattilia) e problemi comportamentali. Alla nascita i genitali sono normali, ma gli adulti possono manifestare ipogonadismo e azoospermia."},"nl":{"name":"49,XYYYY-syndroom","definition":"Een zeldzame anomalie van aantal Y-chromosomen met variabel fenotype, hoofdzakelijk gekenmerkt door matige tot ernstige intellectuele achterstand, spraakachterstand, hypotonie, en milde dysmorfe kenmerken waaronder asymmetrie van aangezicht, hypertelorisme, bilateraal laagstaande flaporen, en micrognathie. Skeletanomalieën (zoals deformiteit van schedel, radio-ulnaire synostose, flexie van elleboog, clinodactylie, brachydactylie) en gedragsproblemen werden ook geassocieerd met deze aandoening. Geslachtsorganen zijn normaal bij de geboorte, maar hypogonadisme en azoöspermie werden gerapporteerd bij volwassenen."},"pt":{"name":"Síndrome 49,XYYYY"},"pl":{"name":"Zespół 49,XYYYY","definition":"Rzadka anomalia liczby chromosomów Y ze zmiennym fenotypem, charakteryzująca się głównie niepełnosprawnością intelektualną w stopniu umiarkowanym lub ciężkim, opóźnieniem mowy, hipotonią i łagodnymi cechami dysmorficznymi, w tym asymetrią twarzy, hiperteloryzmem, nisko osadzonymi małżowinami usznymi obustronnie oraz mikrognacją. Mogą towarzyszyć nieprawidłowości układu kostnego (takie jak deformacje czaszki, synostoza promieniowo-łokciowa, zgięciowe ustawienie stawu łokciowego, klinodaktylia, brachydaktylia) oraz problemy behawioralne. Narządy płciowe po urodzeniu są prawidłowe, chociaż u dorosłych zgłaszano hipogonadyzm i azoospermię."},"cs":{"name":"49,XYYYY syndrom"},"uk":{"name":"49,XYYYY синдром","definition":"A rare Y chromosome number anomaly with a variable phenotype mainly characterized by moderate to severe intellectual disability, speech delay, hypotonia, and mild dysmorphic features, including facial asymmetry, hypertelorism, bilateral low set 'lop' ears, and micrognatia. Skeletal abnormalities (such as skull deformities, radioulnar synostosis, elbow flexion, clinodactyly, brachydactyly) and behavourial problems have also been associated with this condition. Genitalia are normal at birth, although hypogonadism and azoospermia has been reported in adults."},"zh":{"name":"49，XYYYY 综合征","definition":"49，XYYYY综合征是一种罕见的Y染色体数目异常伴不同的表型，主要表现为中到重度智力障碍、言语发育延迟、肌张力减退和轻度变形特征，包括面部不对称、增龄症、双侧低垂耳朵和小颌畸形。骨骼异常(如颅骨畸形、桡尺关节融合、屈肘、斜指、短指)和行为问题也与此病相关。生殖器出生时正常，有报道在成年患者中存在性腺功能减退和无精子症。"},"tr":{"name":"49, XYYYY sendromu"}},"xrefs":[{"source":"ICD-10","code":"Q98.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0020470","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4518342","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":330206,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[156]},{"orpha":102285,"name":"Multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[147]},{"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":8.0,"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":"2015-12-30","source":"8546146[PMID]_2090319[PMID]_9805123[PMID]_7400784[PMID]_7471512[PMID]_6652949[PMID]_6491641[PMID]_3261145[PMID]_7567329[PMID]_12655500[PMID]_17159520[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:0003946","label":"Abnormality of the epiphyses of the elbow","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000119","label":"Abnormality of the genitourinary system","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: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:0011310","label":"Bridged palmar crease","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000280","label":"Coarse facial features","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002967","label":"Cubitus valgus","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: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:0001252","label":"Hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100710","label":"Impulsivity","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:0004237","label":"Large carpal bones","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:0000347","label":"Micrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011343","label":"Moderate global developmental delay","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: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:0002650","label":"Scoliosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009237","label":"Short 5th finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000519","label":"Developmental cataract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002761","label":"Generalized joint hypermobility","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001176","label":"Large hands","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000394","label":"Lop ear","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100559","label":"Lower limb asymmetry","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000243","label":"Trigonocephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000262","label":"Turricephaly","frequency":"Occasional (29-5%)","criteria":null}]}}