{"orpha":79106,"name":"Eiken syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare, genetic, primary bone dysplasia syndrome characterized by multiple epiphyseal dysplasia, severely delayed ossification (mainly of the epiphyses, pubic symphysis, hands and feet), abnormal modeling of the bones in hands and feet, abnormal pelvis cartilage persistence, and mild growth retardation. Calcium, phosphate and vitamin D serum levels are typically within normal range, while parathyroid hormone serum levels are normal to slightly elevated. Oligodontia has been rarely associated.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-79106/","orphanet_url":"https://www.orpha.net/en/disease/detail/79106","names":{"fr":{"name":"Syndrome d'Eiken","definition":"Syndrome rare de dysplasie osseuse primaire d'origine génétique caractérisé par une dysplasie épiphysaire multiple, un important retard d'ossification (principalement des épiphyses, de la symphyse pubienne, des mains et des pieds), un modelage anormal des os des mains et des pieds, une persistance anormale du cartilage pelvien et un léger retard de croissance. Les taux sériques de calcium, de phosphate et de vitamine D sont généralement dans les limites de la normale, tandis que les taux sériques d'hormone parathyroïdienne sont normaux ou légèrement élevés. L'oligodontie est rarement associée."},"de":{"name":"Eiken-Syndrom","definition":"Ein seltene syndromale Form der Knochendysplasie, die gekennzeichnet ist durch eine multiple epiphysäre Dysplasie, eine stark verzögerte Verknöcherung (hauptsächlich der Epiphysen, der Schambeinfuge, der Hände und Füße), eine abnormale Modellierung der Knochen in Händen und Füßen, eine abnormale Knorpelpersistenz des Beckens in Kombination mit einer leichten Wachstumsverzögerung. Die Serumspiegel von Kalzium, Phosphat und Vitamin D liegen in der Regel im Normalbereich, während die Serumspiegel der Parathormone normal bis leicht erhöht sind. Oligodontie wurde selten in Verbindung gebracht."},"es":{"name":"Síndrome de Eiken","definition":"Es una displasia ósea primaria, genética y poco frecuente, caracterizada por displasia epifisaria múltiple, grave retraso en la osificación (principalmente de las epífisis, sínfisis púbica, manos y pies), modelado anómalo de los huesos de las manos y los pies, persistencia anómala de cartílago pélvico y leve retraso del crecimiento. Por lo general, los niveles séricos de calcio, fosfatos y vitamina D están dentro del rango normal, mientras que los niveles séricos de la hormona paratiroidea son normales o ligeramente elevados. Excepcionalmente, se ha asociado con oligodontia."},"it":{"name":"Sindrome di Eiken","definition":"È una displasia scheletrica primitiva genetica rara, caratterizzata da displasia epifisaria multipla, grave ritardo nell'ossificazione (soprattutto delle epifisi, della sinfisi pubica, delle mani e dei piedi), anomalie morfologiche delle ossa delle mani e dei piedi, persistenza anomala della cartilagine del bacino, e lieve ritardo della crescita. Di solito i livelli di calcio, fosfato e vitamina D nel siero sono normali, mentre i livelli dell'ormone paratiroideo nel siero possono essere normali o lievemente elevati. Raramente si associa ad oligodontia."},"nl":{"name":"Syndroom van Eiken","definition":"Een zeldzame, genetische, syndromale primaire botdysplasie, gekarakteriseerd door meervoudige epifysaire dysplasie, ernstig vertraagde ossificatie (voornamelijk van de epifysen, symphysis pubica (schaambeenvoeg), handen en voeten), abnormale modellering van de beenderen in handen en voeten, abnormaal behoud van kraakbeen in het bekken, en milde groeiachterstand. De calcium-, fosfaat- en vitamine D-gehaltes in het serum liggen doorgaans binnen het normale bereik, terwijl het gehalte van parathyroïdhormoon in het serum normaal tot licht verhoogd is. Oligodontie werd nog maar zelden geassocieerd."},"pt":{"name":"Síndrome Eiken"},"pl":{"name":"Zespół Eikena"},"cs":{"name":"Eikenův syndrom"},"uk":{"name":"Синдром Ейкена","definition":"A rare, genetic, primary bone dysplasia syndrome characterized by multiple epiphyseal dysplasia, severely delayed ossification (mainly of the epiphyses, pubic symphysis, hands and feet), abnormal modeling of the bones in hands and feet, abnormal pelvis cartilage persistence, and mild growth retardation. Calcium, phosphate and vitamin D serum levels are typically within normal range, while parathyroid hormone serum levels are normal to slighly elevated. Oligodontia has been rarely associated."},"zh":{"name":"Eiken综合征"},"tr":{"name":"Eiken sendromu"}},"xrefs":[{"source":"OMIM","code":"600002","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q78.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"FB83.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"467339994"},{"source":"MONDO","code":"0010803","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C564010","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1838779","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":93430,"name":"Multiple metaphyseal dysplasia","classifications":[147,156,199]},{"orpha":93447,"name":"Primary bone dysplasia with defective bone mineralization","classifications":[147,156,199]}],"children":[],"genes":[{"symbol":"PTH1R","name":"parathyroid hormone 1 receptor","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"15525660[PMID]","hgnc":"9608","ensembl":"ENSG00000160801","omim":"168468","loci":["3p21.31"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":6.0,"area":"Worldwide","status":"Validated","source":"15525660[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_15525660[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-12-19","source":"6734674[PMID]","terms":[{"hpo":"HP:0002829","label":"Arthralgia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002656","label":"Epiphyseal dysplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006376","label":"Limited elbow flexion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011849","label":"Abnormal bone ossification","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001211","label":"Abnormal fingertip morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100671","label":"Abnormal trabecular bone morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003170","label":"Abnormality of the acetabulum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010305","label":"Absence of the sacrum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001769","label":"Broad foot","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001169","label":"Broad palm","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002967","label":"Cubitus valgus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002663","label":"Delayed epiphyseal ossification","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003038","label":"Fibular hypoplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008808","label":"High iliac wings","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008800","label":"Limited hip movement","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003025","label":"Metaphyseal irregularity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003275","label":"Narrow pelvis bone","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001773","label":"Short foot","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004279","label":"Short palm","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009803","label":"Short phalanx of finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001831","label":"Short toe","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002753","label":"Thin bony cortex","frequency":"Frequent (79-30%)","criteria":null}]}}