{"orpha":300493,"name":"Sagliker syndrome","type":"Particular clinical situation in a disease or syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare bone disease characterized by secondary hyperparathyroidism in patients with chronic renal failure, caused by improper treatment in the early stages of the disease with retention of phosphorus, vitamin D deficiency, and disturbed calcium-phosphorus metabolism, which result in increased parathyroid hormone levels. Patients present with short stature, severe changes of the skull and jaws as well as other skeletal deformities, dental anomalies, ''brown tumors'' in the mouth, hearing loss, and neuropsychiatric disorders.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-300493/","orphanet_url":"https://www.orpha.net/en/disease/detail/300493","names":{"fr":{"name":"Syndrome de Sagliker","definition":"Maladie osseuse rare caractérisée par une hyperparathyroïdie secondaire chez les patients atteints d'insuffisance rénale chronique, causée par l'administration d'un traitement inapproprié aux stades précoces de la maladie donnant lieu à une rétention de phosphore, une carence en vitamine D et une perturbation du métabolisme phospho-calcique à l'origine de taux élevés d'hormone parathyroïdienne. Les signes cliniques sont une petite taille, des malformations sévères du crâne et de la mâchoire, ainsi que d'autres malformations squelettiques, des anomalies dentaires, des « tumeurs brunes » au niveau de la cavité buccale, une perte auditive et des troubles neuropsychiatriques."},"de":{"name":"Sagliker-Syndrom","definition":"Eine seltene Knochenkrankheit, die durch sekundären Hyperparathyreoidismus bei Patienten mit chronischem Nierenversagen gekennzeichnet ist und durch eine unsachgemäße Behandlung in den frühen Stadien der Krankheit mit Phosphorretention, Vitamin-D-Mangel und einem gestörten Kalzium-Phosphor-Stoffwechsel verursacht wird, was zu einem erhöhten Parathormonspiegel führt. Die Patienten weisen Kleinwuchs, schwere Schädel- und Kieferveränderungen sowie andere Fehlbildungen des Skeletts, Zahnanomalien, ''braune Tumore'' im Mund, Hörverlust und neuropsychiatrische Störungen auf."},"es":{"name":"Síndrome de Sagliker","definition":"Es una enfermedad ósea poco frecuente caracterizada por hiperparatiroidismo secundario en pacientes con insuficiencia renal crónica, ocasionada por un tratamiento inadecuado en las primeras fases de la enfermedad, con retención de fósforo, deficiencia de vitamina D y alteración del metabolismo calcio-fósforo, que dan lugar a un incremento de los niveles de la hormona paratiroidea. Los pacientes presentan talla baja y cambios graves en el cráneo y las mandíbulas, así como otras deformidades esqueléticas, anomalías dentales, formación de tumores pardos en la boca, hipoacusia y trastornos neuropsiquiátricos."},"it":{"name":"Sindrome di Sagliker","definition":"Si tratta di una malattia scheletrica rara, caratterizzata da iperparatiroidismo secondario inei pazienti con insufficienza renale cronica, e causata da un trattamento inadeguato nelle prime fasi della malattia con ritenzione di fosforo, deficit di vitamina D e anomalie del metabolismo calcio-fosforo, che determinano un aumento dei livelli dell'ormone paratiroideo. I pazienti presentano bassa statura, gravi alterazioni del cranio e delle mascelle e altre deformità scheletriche, anomalie dei denti, \"tumori marroni\" della bocca, sordità e disturbi neuropsichiatrici."},"nl":{"name":"Syndroom van Sagliker","definition":"Een zeldzame aandoening van bot, gekenmerkt door secundaire hyperparathyreoïdie bij patiënten met chronisch nierfalen, veroorzaakt door onjuiste behandeling in de vroege stadia van de ziekte met retentie van fosfor, deficiëntie van vitamine D, en verstoord metabolisme van calcium-fosfor, wat resulteert in toename van de hoeveelheid parathyroïdhormoon. Patiënten presenteren zich met kleine gestalte, ernstige veranderingen van schedel en kaak alsook andere misvormingen van het skelet, dentale anomalieën, 'bruine tumoren' in de mond, gehoorverlies, en neuropsychiatrische aandoeningen."},"pt":{"name":"Síndrome Sagliker","definition":"Doença óssea rara caracterizada por hiperparatiroidismo secundário em doentes com insuficiência renal crônica, causada por um tratamento inadequado nos estágios iniciais da doença com retenção de fósforo, deficiência de vitamina D e metabolismo de cálcio-fósforo perturbado, que resulta em níveis aumentados da hormona paratiróide. Os doentes apresentam baixa estatura, alterações graves no crânio e na mandíbula, bem como outras deformações esqueléticas, anomalias dentárias, \"tumores acastanhados\" na boca, perda auditiva e distúrbios neuropsiquiátricos."},"pl":{"name":"Zespół Saglikera"},"cs":{"name":"Saglikerových syndrom"},"uk":{"name":"Синдром Саглікера","definition":"A rare bone disease characterized by secondary hyperparathyroidism in patients with chronic renal failure, caused by improper treatment in the early stages of the disease with retention of phosphorus, vitamin D deficiency, and disturbed calcium-phosphorus metabolism, which result in increased parathyroid hormone levels. Patients present with short stature, severe changes of the skull and jaws as well as other skeletal deformities, dental anomalies, ''brown tumors'' in the mouth, hearing loss, and neuropsychiatric disorders."},"zh":{"name":"Sagliker综合征"},"tr":{"name":"Sagliker sendromu"}},"xrefs":[{"source":"ICD-10","code":"N25.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"GB90.4Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"17584","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5681093","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":93419,"name":"Rare bone disease","classifications":[199]},{"orpha":181408,"name":"Rare hyperparathyroidism","classifications":[193]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Multigenic/multifactorial"],"onset":["All ages"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":60.0,"area":"Worldwide","status":"Validated","source":"22200434[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":"2016-10-20","source":"24413727[PMID]","terms":[{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000164","label":"Abnormality of the dentition","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003165","label":"Elevated circulating parathyroid hormone level","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002814","label":"Abnormality of the lower limb","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000716","label":"Depression","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005101","label":"High-frequency hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002515","label":"Waddling gait","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001167","label":"Abnormality of finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000739","label":"Anxiety","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002829","label":"Arthralgia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100649","label":"Neoplasm of the oral cavity","frequency":"Occasional (29-5%)","criteria":null}]}}