{"orpha":231720,"name":"Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Non-acquired combined pituitary hormone deficiency-deafness-rigid cervical spine syndrome"],"definition":"Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome is a rare, genetic, non-acquired, combined pituitary hormone deficiency disorder characterized by panhypopituitarism (with or without ACTH deficiency) associated with spine abnormalities, including frequent rigid cervical spine and short neck with limited rotation, and variable degrees of sensorineural hearing loss. The anterior pituitary gland is usually abnormal (typically hypoplastic) and rarely a mild developmental delay or intellectual disability may be associated.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-231720/","orphanet_url":"https://www.orpha.net/en/disease/detail/231720","names":{"fr":{"name":"Syndrome d'insuffisance hypophysaire multiple non acquise-surdité neurosensorielle-anomalies de la colonne vertébrale","synonyms":["Syndrome d'insuffisance hypophysaire multiple non acquise-surdité de perception-anomalie de rotation du cou"],"definition":"Insuffisance hypophysaire multiple non acquise rare d'origine génétique, caractérisée par un déficit hypophysaire combiné, caractérisé par un panhypopituitarisme (avec ou sans déficit en ACTH) associée à des anomalies de la colonne vertébrale, souvent sous la forme d'une raideur de la colonne cervicale et d'un cou court avec une rotation limitée, et à une perte auditive neurosensorielle de degrés variables. L'antéhypophyse est généralement anormale (hypoplasique) ; elle s'accompagne rarement d'un léger retard de développement ou d'une déficience intellectuelle."},"de":{"name":"Nicht erworbener kombinierter Hypophysenhormon-Mangel-sensorineuraler Hörverlust-spinale Fehlbildungen-Syndrom","synonyms":["Nicht erworbener kombinierter Hypophysenhormon-Mangel-Taubheit-steife Halswirbelsäule-Syndrom"],"definition":"Eine genetisch bedingte, nicht erworbene kombinierte Hypophysenhormonmangelerkrankung, die durch Panhypopituitarismus (mit oder ohne ACTH-Mangel) in Verbindung mit Wirbelsäulenanomalien, einschließlich einer häufig steifen Halswirbelsäule und eines kurzen Halses mit eingeschränkter Rotation, und einer Schallempfindungsschwerhörigkeit unterschiedlichen Grades gekennzeichnet ist. Die vordere Hypophyse ist in der Regel abnormal (typischerweise hypoplastisch) und kann selten mit einer leichten Entwicklungsverzögerung oder Intelligenzminderung einhergehen."},"es":{"name":"Síndrome de deficiencia de hormonas hipofisarias combinada no adquirida-hipoacusia neurosensorial-anomalías de la columna vertebral","synonyms":["Síndrome de deficiencia de hormonas hipofisarias combinada no adquirida-sordera-columna vertebral rígida"],"definition":"El síndrome de deficiencia de la hormona hipofisaria combinada no adquirida con pérdida auditiva neurosensorial y anomalías de la columna vertebral, es un trastorno poco frecuente, genético, no adquirido, de deficiencia de hormona hipofisaria combinada, caracterizado por panhipopituitarismo (con o sin deficiencia de ACTH) y asociado a anomalías de la columna vertebral que incluyen, frecuentemente, rigidez de la columna cervical y cuello corto con rotación limitada, así como diferentes grados de pérdida auditiva neurosensorial. La glándula pituitaria anterior suele ser anómala (típicamente hipoplásica) y, excepcionalmente, se puede asociar leve retraso en el desarrollo o discapacidad intelectual."},"it":{"name":"Sindrome da deficit combinato non acquisito dell'ormone ipofisario, sordità neurosensoriale e anomalie della colonna vertebrale","definition":"La sindrome che associa deficit combinato non acquisito dell'ormone ipofisario, sordità neurosensoriale e anomalie della colonna vertebrale è un raro deficit combinato non acquisito dell'ormone ipofisario, di origine genetica, caratterizzato da panipopituitarismo (con o senza deficit di ACTH), associato ad anomalie della colonna vertebrale (sono frequenti la rigidità del tratto cervicale della colonna e il collo corto con limitata rotazione) e sordità neurosensoriale di gravità variabile. Di solito i pazienti presentano anomalie dell'ipofisi anteriore (in genere ipoplasia) e raramente lieve ritardo dello sviluppo o disabilità intellettiva."},"nl":{"name":"Niet-verworven gecombineerde deficiëntie van hypofysehormonen - sensorineuraal gehoorverlies - afwijkingen van wervelkolom-syndroom","synonyms":["Niet-verworven gecombineerde hypofysehormoondeficiëntie - doofheid - rigide cervicale wervelkolom-syndroom"],"definition":"Niet-verworven gecombineerde hypofysehormoondeficiëntie - sensorineuraal gehoorverlies - wervelkolomafwijkingen-syndroom is een zeldzame, genetische, niet-verworven, gecombineerde hypofysehormoon-deficiëntiestoornis, gekenmerkt door panhypopituïtarisme (met of zonder ACTH-deficiëntie) geassocieerd met afwijkingen van wervelkolom, waaronder frequent rigide cervicale wervelkolom en korte nek met beperkte rotatie, en variabele gradaties van sensorineuraal gehoorverlies. Anterieure hypofyse is meestal abnormaal (doorgaans hypoplastisch) en in zeldzame gevallen kan milde ontwikkelingsachterstand of intellectuele achterstand geassocieerd zijn."},"pt":{"name":"Síndrome de deficiência de hormonas hipofisárias combinada não-adquirida-perda auditiva neurossensorial-anomalias da coluna","synonyms":["Síndrome de deficiência de hormonas hipofisárias combinada não-adquirida-surdez neurossensorial-anomalias da coluna"]},"pl":{"name":"Wrodzony złożony niedobór hormonów przysadki mózgowej z niedosłuchem czuciowo-nerwowym i nieprawidłowościami kręgosłupa","synonyms":["Non-acquired combined pituitary hormone deficiency-deafness-rigid cervical spine syndrome"],"definition":"*Wrodzony złożony niedobór hormonów przysadki mózgowej z niedosłuchem czuciowo-nerwowym i nieprawidłowościami kręgosłupa jest rzadkim, genetycznie uwarunkowanym zespołem z niedoborem hormonów przysadki mózgowej, który charakteryzuje się niedoczynnością przysadki (z niedoborem ACTH lub bez) oraz nieprawidłowościami kręgosłupa, często pod postacią sztywności kręgosłupa szyjnego i krótkiej szyi z ograniczoną rotacją, oraz zróżnicowanym niedosłuchem czuciowo-nerwowym. Przednia część przysadki mózgowej jest zazwyczaj nieprawidłowa (zwykle hipoplastyczna); rzadko towarzyszy łagodne opóźnienie rozwoju lub niepełnosprawność intelektualna."},"cs":{"name":"Nezískaný kombinovaný deficit hormonu hypofýzy s abnormalitami páteře","synonyms":["Non-acquired combined pituitary hormone deficiency-deafness-rigid cervical spine syndrome"]},"uk":{"name":"Синдром ненабутого комбінованого дефіциту гормонів гіпофіза-сенсоневральної приглухуватості-патології хребта","synonyms":["Ненабутий комбінований синдром дефіциту гормонів гіпофіза-глухоти-ригідності шийного відділу хребта"],"definition":"Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome is a rare, genetic, non-acquired, combined pituitary hormone deficiency disorder characterized by panhypopituitarism (with or without ACTH deficiency) associated with spine abnormalities, including frequent rigid cervical spine and short neck with limited rotation, and variable degrees of sensorineural hearing loss. The anterior pituitary gland is usually abnormal (typically hypoplastic) and rarely a mild developmental delay or intellectual disability may be associated."},"zh":{"name":"非获得性联合垂体激素缺陷-感音神经性听觉丧失-脊柱异常综合征","synonyms":["非获得性联合垂体激素缺陷-耳聋-颈椎僵硬综合征"],"definition":"非获得性合并垂体激素缺乏症-感音神经性听力丧失-脊柱畸形综合征是一种罕见的遗传性非获得性的合并垂体激素缺乏综合征，其特征是全垂体功能减退（伴有或不伴有ACTH缺乏），并伴有脊柱畸形，常见颈椎僵硬和颈部短且旋转受限，以及不同程度的感觉神经性耳聋。垂体前叶通常表现异常（典型表现为发育不全），很少与轻度发育迟缓或智力障碍相关。"},"tr":{"name":"Edinsel olmayan kombine hipofiz hormonu eksikliği-sensörinöral işitme kaybı-omurga anormallikleri sendromu","synonyms":["Edinsel olmayan kombine hipofiz hormonu eksikliği-sağırlık-rijit servikal omurga sendromu"]}},"xrefs":[{"source":"OMIM","code":"221750","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E23.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5A61.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"UMLS","code":"C4749825","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10603","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":3228,"name":"OBSOLETE: Neurosensory deafness-pituitary dwarfism syndrome","status":"inactive"}],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":95495,"name":"Disease associated with non-acquired combined pituitary hormone deficiency","classifications":[156,193]},{"orpha":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]}],"children":[],"genes":[{"symbol":"LHX3","name":"LIM homeobox 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"10835633[PMID]_19762173[PMID]","hgnc":"6595","ensembl":"ENSG00000107187","omim":"600577","loci":["9q34.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":13.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_19762173[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":"2016-06-01","source":"18407919[PMID]","terms":[{"hpo":"HP:0010627","label":"Anterior pituitary hypoplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000824","label":"Decreased response to growth hormone stimulation test","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008213","label":"Gonadotropin deficiency","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012287","label":"Hypothalamic luteinizing hormone-releasing hormone deficiency","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008245","label":"Pituitary hypothyroidism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","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:0003423","label":"Thoracolumbar kyphoscoliosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011748","label":"Adrenocorticotropic hormone deficiency","frequency":"Occasional (29-5%)","criteria":null}]}}