{"orpha":884,"name":"Pallister-Killian syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Isochromosome 12p mosaicism","Isochromosome 12p syndrome"],"definition":"A rare chromosomal anomaly characterized by variable developmental delay with intellectual disability, epilepsy, pigmentary skin anomalies and characteristic facial features usually caused by mosaic tetrasomy of the short arm of chromosome 12. A wide range of pulmonary, cardiac, renal, gastrointestinal, genitourinary, ophtalmologic and auditory features are also associated.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-884/","orphanet_url":"https://www.orpha.net/en/disease/detail/884","names":{"fr":{"name":"Syndrome de Pallister-Killian","synonyms":["Isochromosome 12p en mosaïque","Isochromosome 12p surnuméraire"],"definition":"Anomalie chromosomique rare caractérisée par un retard de développement variable associé à une déficience intellectuelle, une épilepsie, des anomalies de pigmentation cutanée et des traits faciaux caractéristiques généralement dus à une tétrasomie mosaïque du bras court du chromosome 12. Par ailleurs, de nombreuses atteintes pulmonaires, cardiaques, rénales, gastro-intestinales, génito-urinaires, ophtalmologiques et auditives sont associées."},"de":{"name":"Pallister-Killian-Syndrom","synonyms":["Isochromosom 12p, überzähliges","Tetrasomie 12p-Mosaik"],"definition":"Eine seltene Chromosomenanomalie, die durch eine variable Entwicklungsverzögerung mit Intelligenzminderung, Epilepsie, pigmentierte Hautanomalien und charakteristische Gesichtszüge gekennzeichnet ist und in der Regel durch eine Mosaik-Tetrasomie des kurzen Arms von Chromosom 12 verursacht wird. Ein breites Spektrum an pulmonalen, kardialen, renalen, gastrointestinalen, urogenitalen, ophtalmologischen und auditiven Merkmalen ist ebenfalls assoziiert."},"es":{"name":"Síndrome de Pallister-Killian","synonyms":["Isocromosoma en mosaico 12p","Síndrome del isocromosoma 12p"],"definition":"Es una anomalía cromosómica poco frecuente caracterizada por un retraso variable del desarrollo con discapacidad intelectual, epilepsia, trastornos de la pigmentación de la piel y rasgos faciales característicos, generalmente causada por una tetrasomía en mosaico del brazo corto del cromosoma 12. También asocia una amplia gama de alteraciones pulmonares, cardíacas, renales, gastrointestinales, genitourinarias, oftalmológicas y auditivas."},"it":{"name":"Sindrome tetrasomia 12p","synonyms":["Isocromosoma 12p a mosaico","Sindrome di Pallister-Killian","Sindrome da isocromosoma 12p"]},"nl":{"name":"Syndroom van Pallister-Killian","synonyms":["Isochromosoom 12p-mozaïcisme","Isochromosoom 12p-syndroom"],"definition":"Een zeldzame chromosomale anomalie, gekenmerkt door variabele ontwikkelingsachterstand met intellectuele achterstand, epilepsie, anomalieën van de huidpigmentatie, en typische gelaatskenmerken, meestal veroorzaakt door mozaïektetrasomie van de korte arm van chromosoom 12. Een brede waaier van pulmonale, cardiale, renale, gastro-intestinale, urogenitale, oftalmologische en auditieve kenmerken zijn ook geassocieerd."},"pt":{"name":"Síndrome Pallister-Killian","synonyms":["Mosaicismo isocromossoma 12p","Síndrome isocromossoma 12p"]},"pl":{"name":"Zespół tetrasomii 12p","synonyms":["Mozaikowatość izochromosomu 12p","Zespół izochromosomu 12p","Zespół Pallistera i Killiana"],"definition":"Rzadka anomalia chromosomowa charakteryzująca się opóźnieniem rozwoju o różnym nasileniu z niepełnosprawnością intelektualną, padaczką, zaburzeniami pigmentacji skóry i charakterystycznymi cechami twarzy. Zwykle związana z mozaikową tetrasomią krótkiego ramienia chromosomu 12. Mogą towarzyszyć objawy ze strony płuc, serca, nerek, przewodu pokarmowego, układu moczowo-płciowego, narządu wzroku i słuchu."},"cs":{"name":"Tetrazomie 12p","synonyms":["Izochromozom 12p v mozaice","Syndrom izochromozomu 12p","Killianův-Pallisterův syndrom","Killian-Pallisterův syndrom"]},"uk":{"name":"Тетрасомія 12p","synonyms":["Мозаїчність ізохромосоми 12p","Синдром ізохромосоми 12p","Синдром Паллістера-Кілліана"],"definition":"Pallister-Killian syndrome (PKS) is a rare multiple congenital anomaly/intellectual deficit syndrome caused by mosaic tissue-limited tetrasomy for chromosome 12p."},"zh":{"name":"12号染色体短臂四体型","synonyms":["12号染色体短臂嵌合等臂染色体"]},"tr":{"name":"Tetrazomi 12p","synonyms":["İzokromozom 12p sendromu","Pallister-Killian sendromu","İzokromozom 12p mosaisizmi"]}},"xrefs":[{"source":"OMIM","code":"601803","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q99.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD7Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1495552441"},{"source":"MONDO","code":"0011146","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538105","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0265449","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"8421","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10080297","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":166469,"name":"Chromosomal anomaly with epilepsy as a major feature","classifications":[156,181]},{"orpha":93461,"name":"Chromosomal disease with overgrowth","classifications":[147,156]},{"orpha":262658,"name":"Partial duplication/triplication of the short arm of chromosome 12 syndrome","classifications":[147,156]},{"orpha":117573,"name":"Syndromic anorectal malformation","classifications":[147,156,182,233]},{"orpha":108979,"name":"Syndromic diaphragmatic or abdominal wall malformation","classifications":[147,182]},{"orpha":180779,"name":"Syndromic diaphragmatic or thoracic malformation","classifications":[186]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable","Unknown"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":4.0,"area":"Europe","status":"Validated","source":"[EXPERT]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0004326","label":"Cachexia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000684","label":"Delayed eruption of teeth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002750","label":"Delayed skeletal maturation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002714","label":"Downturned corners of mouth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000232","label":"Everted lower lip vermilion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000966","label":"Hypohidrosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010864","label":"Intellectual disability, severe","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001315","label":"Reduced tendon reflexes","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:0045075","label":"Sparse eyebrow","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008070","label":"Sparse hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000215","label":"Thick upper lip vermilion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000219","label":"Thin upper lip vermilion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000280","label":"Coarse facial features","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011220","label":"Prominent forehead","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003196","label":"Short nose","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000506","label":"Telecanthus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000582","label":"Upslanted palpebral fissure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100736","label":"Abnormality of the soft palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002023","label":"Anal atresia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null}]}}