{"orpha":435628,"name":"Keppen-Lubinsky syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Generalized lipodystrophy-progeroid features-severe intellectual disability syndrome"],"definition":"A rare, genetic, primary lipodystrophy syndrome characterized by severe developmental delay and intellectual disability, hypertonia, hyperreflexia, microcephaly, tightly adherent skin, an aged appearance, severe generalized lipodystrophy, and distinct facial dysmorphism which includes large prominent eyes, narrow nasal bridge, tented upper lip vermilion, an open mouth, and high-arched palate. Laboratory analysis of serum and urine are normal.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-435628/","orphanet_url":"https://www.orpha.net/en/disease/detail/435628","names":{"fr":{"name":"Syndrome de Keppen-Lubinsky","synonyms":["Syndrome de lipodystrophie généralisée-traits progéroïdes-déficience intellectuelle sévère"],"definition":"Syndrome de lipodystrophie primitive rare, d'origine génétique, caractérisé par un retard de développement et une déficience intellectuelle sévères, une hypertonie, une hyperréflexie, une microcéphalie, une perte de tissu adipeux, un vieillissement cutané accéléré, une lipodystrophie généralisée sévère et une dysmorphie faciale caractéristique à type de grands yeux proéminents, de pont nasal étroit, de vermillon de la lèvre supérieure en accent circonflexe, de bouche entrouverte et de palais ogival. Les résultats des analyses sériques et urinaires sont normaux."},"de":{"name":"Keppen-Lubinsky-Syndrom","synonyms":["Generalisierte Lipodystropie-progeroide Merkmale-schwere Intelligenzminderung-Syndrom"],"definition":"Ein genetisch bedingtes, primäres Lipodystrophie-Syndrom, das gekennzeichnet ist durch eine schwere Entwicklungsverzögerung und Intelligenzminderung, Hypertonie, Hyperreflexie, Mikrozephalie, eng anliegende Haut, ein gealtertes Erscheinungsbild, eine schwere generalisierte Lipodystrophie und ausgeprägte Gesichtsdysmorphien, zu denen große hervorstehende Augen, ein schmaler Nasenrücken, zeltförmige Oberlippe, ein offener Mund und ein hochgewölbter Gaumen zählen. Die Laboranalysen von Serum und Urin sind normal."},"es":{"name":"Síndrome de Keppen-Lubinsky","synonyms":["Síndrome de lipodistrofia generalizada-rasgos progeroides-discapacidad intelectual grave"],"definition":"Es un síndrome de lipodistrofia primaria, genético y poco frecuente, caracterizado por un grave retraso del desarrollo y discapacidad intelectual, hipertonía, hiperreflexia, microcefalia, piel firmemente adherida, apariencia envejecida, grave lipodistrofia generalizada y dismorfia facial distintiva que incluye ojos grandes y prominentes, puente nasal estrecho, bermellón del labio superior en carpa, boca abierta y paladar ojival. Las pruebas analíticas en suero y orina son normales."},"it":{"name":"Sindrome di Keppen-Lubinsky","synonyms":["Sindrome lipodistrofia generalizzata-tratti progeroidi-disabilità cognitiva grave","Sindrome lipodistrofia generalizzata-tratti progeroidi-disabilità cognitiva grave"],"definition":"È una lipodistrofia primitiva genetica rara, caratterizzata da grave ritardo dello sviluppo, disabilità intellettiva, ipertonia, iperreflessia, microcefalia, cute adesa, aspetto vecchieggiante, lipodistrofia grave generalizzata e dismorfismi facciali caratteristici, che comprendono gli occhi grandi e prominenti, la sella nasale stretta, la porzione mucosa del labbro superiore ''a tenda'', la bocca aperta e il palato ogivale. Le analisi di laboratorio sul siero e sulle urine sono normali."},"nl":{"name":"Syndroom van Keppen-Lubinsky","synonyms":["Gegeneraliseerde lipodystrofie - progeroïde kenmerken - ernstige intellectuele achterstand-syndroom"],"definition":"Een zeldzaam, genetisch, primair lipodystrofiesyndroom dat gekarakteriseerd wordt door ernstige ontwikkelingsachterstand en intellectuele achterstand, hypertonie, hyperreflexie, microcefalie, strakke huid, verouderd uiterlijk, ernstige gegeneraliseerde lipodystrofie, en typische faciale dysmorfie met onder meer grote en prominente ogen, smalle neusbrug, tentvormig vermiljoen van de bovenlip, een open mond, en hoog gebogen verhemelte. Laboratoriumanalyses van serum en urine zijn normaal."},"pt":{"name":"Síndrome Keppen-Lubinsky","synonyms":["Síndrome de lipodistrofia generalizada-características progeroides--perturbação do desenvolvimento intelectual grave"]},"pl":{"name":"Zespół Keppenów i Lubinsky'ego","synonyms":["Zespół lipodystrofii uogólnionej, cech progeroidalnych i ciężkiej niepełnosprawności intelektualnej"]},"cs":{"name":"Keppenové-Lubinského syndrom","synonyms":["Syndrom zahrnující generalizovanou lipodystrofii, progeroidní rysy a těžkou mentální retardaci","Keppen-Lubinského syndrom"]},"uk":{"name":"Синдром Кеппена-Любінського","synonyms":["Синдром генералізованої ліподистрофії - прогероїдних ознак - тяжкої інтелектуальної недостатності"],"definition":"A rare, genetic, primary lipodystrophy syndrome characterized by severe developmental delay and intellectual disability, hypertonia, hyperreflexia, microcephaly, tightly adherent skin, an aged appearance, severe generalized lipodystrophy, and distinct facial dysmorphism which includes large prominent eyes, narrow nasal bridge, tented upper lip vermilion, an open mouth, and high-arched palate. Laboratory analysis of serum and urine are normal."},"zh":{"name":"Keppen-Lubinsky综合征","synonyms":["全身性脂肪营养不良-早老症-严重智力障碍综合征"],"definition":"一种罕见的遗传性原发性脂肪营养不良综合征，其特征在于严重的发育迟缓和智力障碍，肌张力升高，反射亢进，小头畸形，皮肤紧贴，衰老面容，严重的全身性脂肪营养不良和明显的面部畸形，包括眼睛大而突出，鼻梁狭窄，帐篷状上唇，嘴巴张开和高腭弓。血清和尿液实验室检查均正常。"},"tr":{"name":"Keppen-Lubinsky sendromu","synonyms":["Jeneralize lipodistrofi-progeroid özellikler-ağır zihinsel yetersizlik sendromu"]}},"xrefs":[{"source":"OMIM","code":"614098","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E88.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2B","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0013572","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3279800","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":98305,"name":"Genetic lipodystrophy","classifications":[156,187,193]},{"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]},{"orpha":98746,"name":"Neurological channelopathy of the central nervous system due to a genetic potassium channel defect","classifications":[156]}],"children":[],"genes":[{"symbol":"KCNJ6","name":"potassium inwardly rectifying channel subfamily J member 6","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25620207[PMID]","hgnc":"6267","ensembl":"ENSG00000157542","omim":"600877","loci":["21q22.13"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Not applicable"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"25620207[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_25620207[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-12-05","source":"25620207[PMID]_19610118[PMID]_12567423[PMID]","terms":[{"hpo":"HP:0009059","label":"Congenital generalized lipodystrophy","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0005328","label":"Progeroid facial appearance","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000194","label":"Open mouth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100678","label":"Premature skin wrinkling","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000322","label":"Short philtrum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000496","label":"Abnormality of eye movement","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000290","label":"Abnormality of the forehead","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001090","label":"Abnormally large globe","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010751","label":"Chin dimple","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008734","label":"Decreased testicular size","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002094","label":"Dyspnea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001371","label":"Flexion contracture","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000212","label":"Gingival overgrowth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001276","label":"Hypertonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002187","label":"Intellectual disability, profound","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009125","label":"Lipodystrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000292","label":"Loss of facial adipose tissue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000298","label":"Mask-like facies","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009933","label":"Narrow naris","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000446","label":"Narrow nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002179","label":"Opisthotonus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001561","label":"Polyhydramnios","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008897","label":"Postnatal growth retardation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005274","label":"Prominent nasal tip","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000520","label":"Proptosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006532","label":"Recurrent pneumonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002093","label":"Respiratory insufficiency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011344","label":"Severe global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000586","label":"Shallow orbits","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001285","label":"Spastic tetraparesis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010804","label":"Tented upper lip vermilion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000430","label":"Underdeveloped nasal alae","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002781","label":"Upper airway obstruction","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002659","label":"Increased susceptibility to fractures","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null}]}}