{"orpha":85327,"name":"X-linked intellectual disability-acromegaly-hyperactivity syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"X-linked intellectual disability-acromegaly-hyperactivity syndrome is characterised by severe intellectual deficit, acromegaly and hyperactivity. The syndrome has been described in two half-brothers. Dysarthria, aggressive behaviour, a characteristic facies (an acromegalic and triangular face with a long nose) and macroorchidism were also present. The mother displayed moderate intellectual deficit and milder facial anomalies. Central nervous system anomalies were identified in the two boys: subarachnoid cysts and hyperdensity in the pontine region.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-85327/","orphanet_url":"https://www.orpha.net/en/disease/detail/85327","names":{"fr":{"name":"Syndrome de déficience intellectuelle liée à l'X-acromégalie-hyperactivité","definition":"Le syndrome de déficience intellectuelle liée à l'X-acromégalie-hyperactivité se caractérise par une déficience intellectuelle sévère, une acromégalie et une hyperactivité. Une dysarthrie, un comportement agressif, un visage caractéristique (visage de type acromégalique et de forme triangulaire, nez long) et une macroorchidie sont également présents. Ce syndrome a été décrit chez deux demi-frères dont la mère présentait également un déficit intellectuel modéré et des anomalies moins marquées du visage. Des anomalies du système nerveux central ont été mise en évidence chez l'un des deux garçons : kyste subarachnoïdien et hyperdensité de la région pontine."},"de":{"name":"X-chromosomale Intelligenzminderung-Akromegalie-Hyperaktivität-Syndrom","definition":"Das X-chromosomale Syndrom mit Intelligenzminderung, Akromegalie und Hyperaktivität ist durch eine schwere Intelligenzminderung, Akromegalie und Hyperaktivität gekennzeichnet. Das Syndrom wurde bei zwei Halbbrüdern beschrieben. Dysarthrie, aggressives Verhalten, ein charakteristisches Gesicht (ein akromegalisches und dreieckiges Gesicht mit einer langen Nase) und Makroorchidismus waren ebenfalls vorhanden. Die Mutter wies eine moderate intellektuelle Beeinträchtigung und mildere Gesichtsanomalien auf. Bei den beiden Jungen wurden Anomalien des Zentralnervensystems festgestellt: Subarachnoidalzysten und Hyperdichte in der Ponsregion."},"es":{"name":"Síndrome de discapacidad intelectual-acromegalia-hiperactividad ligado al cromosoma X","definition":"Es un síndrome caracterizado por déficit intelectual grave, acromegalia e hiperactividad. El síndrome se ha notificado en dos medios hermanos. También se ha descrito la asociación a disartria, conducta agresiva, facies característica (cara acromegálica y triangular con nariz alargada) y macroorquidia. La madre presentaba un déficit intelectual moderado y anomalías faciales más leves. Ambos niños presentaban anomalías del sistema nervioso central: quistes subaracnoideos e hiperdensidad en la región pontina."},"it":{"name":"Sindrome disabilità intellettiva legata all'X-acromegalia-iperattività"},"nl":{"name":"X-gebonden intellectuele achterstand - acromegalie - hyperactiviteit-syndroom","definition":"Een syndroom, gekenmerkt door ernstige intellectuele achterstand, acromegalie en hyperactiviteit. Het werd beschreven bij twee halfbroers. Dysartrie, agressief gedrag, kenmerkend gelaat (acromegalisch en driehoekig aangezicht met lange neus) en macro-orchidie waren ook aanwezig. De moeder vertoonde matige intellectuele achterstand en mildere faciale anomalieën. Anomalieën van centraal zenuwstelsel werden geïdentificeerd bij de twee jongens: subarachnoïdale cysten en hyperdensiteit in het gebied van pons."},"pt":{"name":"Síndrome de perturbação do desenvolvimento intelectual ligada ao X-acromegalia-hiperatividade"},"pl":{"name":"Niepełnosprawność intelektualna sprzężona z chromosomem X - akromegalia - hiperaktywność"},"cs":{"name":"X-vázaný syndrom zahrnující mentální retardaci, akromegalii a hyperaktivitu"},"uk":{"name":"Синдром Х-зчепленої розумової відсталості-акромегалії-гіперактивності","definition":"X-linked intellectual disability-acromegaly-hyperactivity syndrome is characterised by severe intellectual deficit, acromegaly and hyperactivity. The syndrome has been described in two half-brothers. Dysarthria, aggressive behaviour, a characteristic facies (an acromegalic and triangular face with a long nose) and macroorchidism were also present. The mother displayed moderate intellectual deficit and milder facial anomalies. Central nervous system anomalies were identified in the two boys: subarachnoid cysts and hyperdensity in the pontine region."},"zh":{"name":"X连锁智力障碍-肢端肥大症-多动综合征"},"tr":{"name":"X'e bağlı zihinsel yetersizlik-akromegali-hiperaktivite sendromu"}},"xrefs":[{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD90","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0019424","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4304407","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":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"2018059[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_2018059[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-11-22","source":"2018059[PMID]","terms":[{"hpo":"HP:0007361","label":"Abnormality of the pons","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000718","label":"Aggressive behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030353","label":"Decreased serum insulin-like growth factor 1","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000845","label":"Elevated circulating growth hormone concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000752","label":"Hyperactivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002187","label":"Intellectual disability, profound","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003189","label":"Long nose","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000053","label":"Macroorchidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009745","label":"Spinalarachnoid cyst","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000325","label":"Triangular face","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003564","label":"Folate-dependent fragile site at Xq28","frequency":"Excluded (0%)","criteria":null}]}}