{"orpha":314621,"name":"Duplication of the pituitary gland","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["DPG-plus syndrome","Duplication of the pituitary gland-plus syndrome","Hypophyseal duplication"],"definition":"A rare midline cerebral malformation characterized by duplicated pituitary stalks and/or glands within duplicated sella. Patients may present various degrees of facial dysmorphism and endocrine abnormalities, including precocious puberty, hypogonadism, hypothyroidism and/or hyperprolactinemia, as well as associated congenital anomalies, such as clift lip/palate, bifid nasal bridge/tongue/uvula, hypothalamic enlargement with or without hamartoma, nasopharyngeal tumors, corpus callosum agenesis/hypoplasia, basilar artery duplication, and/or vertebral defects (in particular, duplication of the odontoid process).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-314621/","orphanet_url":"https://www.orpha.net/en/disease/detail/314621","names":{"fr":{"name":"Duplication de l'hypophyse","synonyms":["Duplication de la glande pituitaire","Syndrome de duplication de l'hypophyse"],"definition":"Malformation cérébrale médiane rare caractérisée par une duplication des tiges et/ou des glandes hypophysaires à l'intérieur d'une selle dupliquée. Les patients peuvent présenter une dysmorphie faciale de degrés divers et des anomalies endocriniennes, notamment une puberté précoce, un hypogonadisme, une hypothyroïdie et/ou une hyperprolactinémie, ainsi que des anomalies congénitales associées, telles qu'un bec-de-lièvre/fente palatine, nez/langue/uvule bifide, hypertrophie hypothalamique avec ou sans hamartome, tumeurs nasopharyngées, agénésie/hypoplasie du corps calleux, duplication de l'artère basilaire et/ou anomalies vertébrales (en particulier, duplication de l'apophyse odontoïde)."},"de":{"name":"Hypophysen-Verdoppelung","synonyms":["Hirnanhangdrüse-Verdoppelung","Verdoppelung der Hirnanhangdrüse plus-Syndrom","DPG plus-Syndrom"]},"es":{"name":"Duplicación de la glándula hipofisaria","synonyms":["Duplicación hipofisaria","Síndrome de DPG-plus","Síndrome de duplicación de la glándula hipofisaria-plus"],"definition":"Es un trastorno poco frecuente de malformación cerebral en la línea media que se caracteriza por tallos y/o glándulas pituitarias duplicadas dentro de la silla duplicada. Los afectados pueden presentar diversos grados de dismorfia facial y anomalías endocrinas, que incluyen pubertad precoz, hipogonadismo, hipotiroidismo y/o hiperprolactinemia, así como anomalías congénitas asociadas, tales como labio leporino / paladar hendido, puente nasal / lengua / úvula bífidos, agrandamiento hipotalámico con o sin hamartoma, tumores nasofaríngeos, agenesia / hipoplasia de cuerpo calloso, duplicación de la arteria basilar y/o defectos vertebrales (en particular, duplicación del proceso odontoideo)."},"it":{"name":"Duplicazione della ghiandola ipofisaria","synonyms":["Duplicazione ipofisaria","Sindrome DPG-plus","Sindrome da duplicazione della ghiandola ipofisaria-plus"],"definition":"La duplicazione della ghiandola ipofisaria è una malformazione rara della linea mediana del cervello, caratterizzata dalla duplicazione dei peduncoli e/o dell'ipofisi, associata alla duplicazione della sella. I pazienti presentano dismorfismi facciali di gravità variabile, anomalie endocrine (pubertà precoce, ipogonadismo, ipotiroidismo e/o iperprolattinemia), anomalie congenite (labio/palatoschisi, sella nasale/lingua/ugola bifida, allargamento dell'ipotalamo con o senza amartomi, tumori nasofaringei, agenesia/ipoplasia del corpo calloso, duplicazione dell'arteria basilare, e/o difetti delle vertebre (in particolare la duplicazione del processo odontoide)."},"nl":{"name":"Duplicatie van hypofyse","synonyms":["DPG-plus-syndroom","Duplicatie van hypofyse-plus-syndroom","Hypofysaire duplicatie"],"definition":"Duplicatie van de hypofyse is een zeldzame cerebrale malformatie op de middellijn die gekarakteriseerd wordt door duplicatie van de hypofysesteel en/of de hypofyse in gedupliceerde sellae turcicae. Patiënten kunnen zich presenteren met verschillende gradaties van faciale dysmorfie en endocriene afwijkingen, waaronder vroegtijdige puberteit, hypogonadisme, hypothyreoïdie en/of hyperprolactinemie, alsook geassocieerde congenitale anomalieën, zoals gespleten lip/verhemelte, gespleten neusbrug/tong/uvula, uitzetting van de hypothalamus met of zonder hamartoom, nasofaryngeale tumoren, agenesie/hypoplasie van het corpus callosum, duplicatie van de arteria basilaris (hersenbasisslagader), en/of vertebrale defecten (voornamelijk duplicatie van de processus odontoideus)."},"pt":{"name":"Duplicação da hipófise","synonyms":["Duplicação hipofisária","Síndrome DPG-plus","Síndrome da duplicação hipofisária-plus"]},"pl":{"name":"Zdwojenie przysadki mózgowej","synonyms":["Zespół DPG-plus","Zespół zdwojenie przysadki plus"],"definition":"*Zdwojenie przysadki mózgowej jest rzadką wadą rozwojową linii pośrodkowej mózgowia, która charakteryzuje się zdwojeniem szypuły przysadki i/lub zdwojeniem samej przysadki w obrębie zduplikowanego siodła. U pacjentów może występować dysmorfia twarzy różnego stopnia oraz zaburzenia endokrynologiczne, w tym przedwczesne dojrzewanie, hipogonadyzm, niedoczynność tarczycy i/lub hiperprolaktynemia, a także wady wrodzone, w tym rozszczep wargi/podniebienia, rozszczep grzbietu nosa/języka/języczka, wady podwzgórza z lub bez hamartoma, guzy jamy nosowo-gardłowej, agenezja/hipoplazja ciała modzelowatego, podwojenie tętnicy podstawnej i/lub wady kręgosłupa (w szczególności zwojenie wyrostka zębodołowego)."},"cs":{"name":"Zdvojení hypofýzy","synonyms":["DPG-plus syndrom"]},"uk":{"name":"Дуплікація гіпофіза","synonyms":["Синдром DPG-плюс","Дуплікація синдрому гіпофіз-плюс","Гіпофізарне дублювання"],"definition":"A rare midline cerebral malformation characterized by duplicated pituitary stalks and/or glands within duplicated sella. Patients may present various degrees of facial dysmorphism and endocrine abnormalities, including precocious puberty, hypogonadism, hypothyroidism and/or hyperprolactinemia, as well as associated congenital anomalies, such as clift lip/palate, bifid nasal bridge/tongue/uvula, hypothalamic enlargement with or without hamartoma, nasopharyngeal tumors, corpus callosum agenesis/hypoplasia, basilar artery duplication, and/or vertebral defects (in particular, duplication of the odontoid process)."},"zh":{"name":"垂体重复","synonyms":["双垂体附加综合征"],"definition":"双垂体畸形是一种罕见的脑中线畸形疾病，其特征是双垂体柄和/或两个鞍内的腺体。患者可能出现不同程度的面部畸形和内分泌异常，包括性早熟、性腺功能减退、甲状腺功能减退和/或高催乳素血症，以及相关的先天性异常，如唇腭裂、双鼻梁/舌/悬雍垂、下丘脑肥大伴或不伴错构瘤，鼻咽肿瘤、胼胝体缺失/发育不全、双基底动脉和/或椎体缺陷（尤其是双齿状突）。"},"tr":{"name":"Hipofiz bezinin duplikasyonu","synonyms":["DPG-artı sendromu","Hipofiz duplikasyon","Hipofiz bezi-artı sendromunun duplikasyonu"]}},"xrefs":[{"source":"ICD-10","code":"Q89.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0017808","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4755258","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":268926,"name":"Midline cerebral malformation","classifications":[147,156,181]},{"orpha":181384,"name":"Rare hypothalamic or pituitary disease","classifications":[193]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":38.0,"area":"Worldwide","status":"Validated","source":"22439114[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":"2016-02-22","source":"23182816[PMID]_21415659[PMID]_22439114[PMID]","terms":[{"hpo":"HP:0012286","label":"Abnormal hypothalamus morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011729","label":"Abnormality of joint mobility","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:3000005","label":"Abnormality of masseter muscle","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002418","label":"Abnormality of midbrain morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003319","label":"Abnormality of the cervical spine","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003310","label":"Abnormality of the odontoid process","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012503","label":"Abnormality of the pituitary gland","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100872","label":"Abnormality of the plantar skin of foot","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002679","label":"Abnormality of the sella turcica","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000157","label":"Abnormality of the tongue","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001274","label":"Agenesis of corpus callosum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000244","label":"Brachyturricephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007642","label":"Congenital stationary night blindness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004325","label":"Decreased body weight","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002084","label":"Encephalocele","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007036","label":"Hypoplasia of olfactory tract","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010864","label":"Intellectual disability, severe","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002061","label":"Lower limb spasticity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011800","label":"Midface retrusion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001561","label":"Polyhydramnios","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000278","label":"Retrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000742","label":"Self-mutilation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011069","label":"Supernumerary tooth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009792","label":"Teratoma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002943","label":"Thoracic scoliosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000154","label":"Wide mouth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002580","label":"Volvulus","frequency":"Occasional (29-5%)","criteria":null}]}}