{"orpha":2614,"name":"Nail-patella syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Onychoosteodysplasia","Turner-Kieser syndrome"],"definition":"A rare hereditary patellar dysostosis characterized by nail hypoplasia or aplasia, aplastic or hypoplastic patellae, elbow dysplasia, and the presence of iliac horns as well as renal and ocular anomalies.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2614/","orphanet_url":"https://www.orpha.net/en/disease/detail/2614","names":{"fr":{"name":"Syndrome nail-patella","synonyms":["Onycho-ostéodysplasie","Ostéo-onychodysplasie héréditaire","Syndrome de Turner-Kieser"],"definition":"Dysostose rotulienne héréditaire rare caractérisée par une hypoplasie ou une aplasie unguéale, une aplasie ou hypoplasie de rotules, une dysplasie du coude et la présence de cornes iliaques, ainsi que des anomalies rénales et oculaires."},"de":{"name":"Nagel-Patella-Syndrom","synonyms":["Osteoonychodysplasie","Turner-Kieser-Syndrom"],"definition":"Eine hereditäre Patelladysostose, die durch Nagelhypoplasie oder -aplasie, aplastische oder hypoplastische Kniescheiben, Ellbogendysplasie und das Vorhandensein von Darmbeinhörnern sowie Nieren- und Augenanomalien gekennzeichnet ist."},"es":{"name":"Síndrome uña-rótula","definition":"Es una disostosis patelar hereditaria poco frecuente caracterizada por hipoplasia o aplasia de las uñas y rótulas, displasia de codo y presencia de cuernos ilíacos, así como anomalías renales y oculares."},"it":{"name":"Sindrome nail-patella","synonyms":["Onico-osteo-displasia","Sindrome di Turner-Kieser"],"definition":"La sindrome unghia-rotula o nail-patella (NPS) è una disostosi ereditaria rara della rotula, caratterizzata dall'ipoplasia o dall'aplasia delle unghie e della rotula, dalla displasia del gomito e dalla presenza di corna iliache e anomalie renali e oculari."},"nl":{"name":"Nagel - patella-syndroom","synonyms":["Onycho-osteodysplasie","Syndroom van Turner-Kieser"],"definition":"Een zeldzame hereditaire dysostose van patella, gekarakteriseerd door hypoplasie of aplasie van nagels, aplastische of hypoplastische knieschijven, dysplasie van elleboog, en aanwezigheid van exostose van ilium (iliacale hoorn), alsook nier- en ooganomalieën."},"pt":{"name":"Síndrome unha-rótula","synonyms":["Onico-osteo-displasia","Síndrome Turner-Kieser"],"definition":"Uma disostose hereditária rara da patela caracterizada por hipoplasia ou aplasia ungueal, patelas aplásticas ou hipoplásicas, displasia do cotovelo e a presença de exostoses nos ilíacos (''cornos ilíacos''), bem como anomalias renais e oculares."},"pl":{"name":"Zespół paznokieć-rzepka","synonyms":["Onychoosteodysplazja","Zespół Turnera i Kiesera"]},"cs":{"name":"Syndrom nehet-patela","synonyms":["Osteoonychodysplázie","Nail-patella syndrom","Turnerův-Kieserův syndrom","Turner-Kieserův syndrom"]},"uk":{"name":"Нігтьово-колінний синдром","synonyms":["Оніхоостеодисплазія","Синдром Тернера-Кізера"],"definition":"A rare hereditary patellar dysostosis characterized by nail hypoplasia or aplasia, aplastic or hypoplastic patellae, elbow dysplasia, and the presence of iliac horns as well as renal and ocular anomalies."},"zh":{"name":"指甲-髌骨综合征","synonyms":["Turner-Kieser综合征"]},"tr":{"name":"Nail-patella sendromu","synonyms":["Onikoosteodisplazi","Turner-Kieser sendromu"]}},"xrefs":[{"source":"OMIM","code":"161200","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.2","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"LD24.J0","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1121867410"},{"source":"MONDO","code":"0008061","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D009261","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0027341","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7160","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10063431","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":98704,"name":"OBSOLETE: Onycho-patellar syndrome with eye involvement","status":"inactive"}],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":567562,"name":"Disorder with multisystemic involvement and glomerulopathy","classifications":[156,188,233]},{"orpha":93455,"name":"Patellar dysostosis","classifications":[147,156,199]},{"orpha":98638,"name":"Rare disease with glaucoma as a major feature","classifications":[156,189]},{"orpha":79370,"name":"Syndromic nail anomaly","classifications":[156,187]}],"children":[],"genes":[{"symbol":"LMX1B","name":"LIM homeobox transcription factor 1 beta","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301311[PMID]","hgnc":"6654","ensembl":"ENSG00000136944","omim":"602575","loci":["9q33.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Antenatal","Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":2.2,"area":"United Kingdom","status":"Validated","source":"10972657[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"Worldwide","status":"Validated","source":"10972657[PMID]_16825280[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.2,"area":"Europe","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2005-2012[OTHER]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.0,"area":"Australia","status":"Validated","source":"16825280[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-04-16","source":"32644616[PMID]_20301311[PMID]","terms":[{"hpo":"HP:0011297","label":"Abnormal digit morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001597","label":"Abnormal nail morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008034","label":"Abnormal iris pigmentation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009811","label":"Abnormality of the elbow","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000077","label":"Abnormality of the kidney","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002815","label":"Abnormality of the knee","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001369","label":"Arthritis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003418","label":"Back pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002019","label":"Constipation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003199","label":"Decreased muscle mass","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002987","label":"Elbow flexion contracture","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008110","label":"Equinovarus deformity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100798","label":"Fingernail dysplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001371","label":"Flexion contracture","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009780","label":"Iliac horns","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012718","label":"Morphological abnormality of the gastrointestinal tract","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001763","label":"Pes planus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031910","label":"Abnormal cranial nerve physiology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003045","label":"Abnormal patella morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002823","label":"Abnormality of femur morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000478","label":"Abnormality of the eye","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002992","label":"Abnormality of tibia morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001771","label":"Achilles tendon contracture","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031006","label":"Acroparesthesia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009760","label":"Antecubital pterygium","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009697","label":"Contracture of the distal interphalangeal joint of the fingers","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002967","label":"Cubitus valgus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003083","label":"Dislocated radial head","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006297","label":"Enamel hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000790","label":"Hematuria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009890","label":"High anterior hairline","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000348","label":"High forehead","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007328","label":"Impaired pain sensation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010829","label":"Impaired temperature sensition","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006380","label":"Knee flexion contracture","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0045086","label":"Knee joint hypermobility","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030839","label":"Knee pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009781","label":"Lester's sign","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001377","label":"Limited elbow extension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006394","label":"Limited pronation/supination of forearm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002938","label":"Lumbar hyperlordosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000123","label":"Nephritis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000100","label":"Nephrotic syndrome","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007906","label":"Ocular hypertension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012108","label":"Open angle glaucoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010886","label":"Osteochondritis Dissecans","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000939","label":"Osteoporosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006443","label":"Patellar aplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002999","label":"Patellar dislocation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003065","label":"Patellar hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000767","label":"Pectus excavatum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008007","label":"Primary congenital glaucoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000093","label":"Proteinuria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005190","label":"Proximal finger joint hyperextensibility","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004349","label":"Reduced bone mineral density","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000083","label":"Renal insufficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003302","label":"Spondylolisthesis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003304","label":"Spondylolysis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003774","label":"Stage 5 chronic kidney disease","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001884","label":"Talipes calcaneovalgus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008124","label":"Talipes calcaneovarus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001772","label":"Talipes equinovalgus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001762","label":"Talipes equinovarus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004722","label":"Thickening of the glomerular basement membrane","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030051","label":"Tip-toe gait","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100797","label":"Toenail dysplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002597","label":"Abnormality of the vasculature","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0006702","label":"Coronary artery dissection","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0005290","label":"Internal carotid artery hypoplasia","frequency":"Very rare (<4-1%)","criteria":null}]}}