{"orpha":93324,"name":"Autosomal recessive Kenny-Caffey syndrome","type":"Etiological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare, primary bone dysplasia characterized by prenatal and postnatal growth retardation, short stature, cortical thickening and medullary stenosis of the long bones, absent diploic space in the skull bones, hypocalcemia due to the hypoparathyroidism, small hands and feet, delayed mental and motor development, intellectual disability, dental anomalies, and dysmorphic features, including prominent forehead, small deep-set eyes, beaked nose, and micrognathia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-93324/","orphanet_url":"https://www.orpha.net/en/disease/detail/93324","names":{"fr":{"name":"Syndrome de Kenny-Caffey autosomique récessif","definition":"Dysplasie osseuse primaire rare caractérisée par un retard de croissance prénatal et post-natal, une petite taille, un épaississement cortical et une sténose médullaire des os longs, une absence d'espace diploïque au niveau des os du crâne, une hypocalcémie due à l'hypoparathyroïdie, des mains et des pieds de petite taille, un retard de développement psychomoteur, une déficience intellectuelle, des anomalies dentaires et une dysmorphie faciale (front proéminent, petits yeux profondément situés dans les orbites, nez en bec d'oiseau et micrognathie)."},"de":{"name":"Kenny-Caffey-Syndrom, autosomal-rezessives","definition":"Eine seltene, primäre Knochendysplasie, die gekennzeichnet ist durch pränatale und postnatale Wachstumsverzögerung, Kleinwuchs, Kortikalisverdickung und Markraumstenose der Röhrenknochen, fehlenden Diploidraum in den Schädelknochen, Hypokalzämie aufgrund von Hypoparathyreoidismus, kleine Hände und Füße, verzögerte geistige und motorische Entwicklung, Intelligenzminderung, Zahnanomalien und dysmorphe Merkmale, einschließlich vorstehender Stirn, kleiner tiefliegender Augen, Schnabelnase und Mikrognathie."},"es":{"name":"Síndrome de Kenny-Caffey autosómico recesivo","definition":"Es una displasia ósea primaria poco frecuente caracterizada por retraso del crecimiento pre-y postnatal, talla baja, engrosamiento cortical y estenosis medular de los huesos largos, ausencia de espacio diploico en la bóveda craneal, hipocalcemia por hipoparatiroidismo, manos y pies pequeños, retraso del desarrollo psicomotor, discapacidad intelectual, anomalías dentales y dismorfia, incluyendo frente prominente, ojos pequeños y hundidos, nariz en forma de pico y micrognatia."},"it":{"name":"Sindrome di Kenny-Caffey autosomica recessiva","definition":"È una displasia scheletrica primitiva rara, caratterizzata da ritardo della crescita pre- e post-natale, bassa statura, ispessimento corticale e stenosi midollare delle ossa lunghe, assenza dello spazio diploico nelle ossa del cranio, ipocalcemia secondaria all'ipoparatiroidismo, ipoplasia delle mani e dei piedi, ritardo dello sviluppo cognitivo e motorio, disabilità intellettiva, anomalie dei denti e dismorfismi facciali (fronte prominente, occhi piccoli e infossati, naso a becco e micrognazia)."},"nl":{"name":"Autosomaal recessief syndroom van Kenny-Caffey","definition":"Een zeldzame, primaire botdysplasie die gekarakteriseerd wordt door pre- en postnatale groeiretardatie, kleine gestalte, corticale verdikking en medullaire stenose van de pijpbeenderen, afwezige diploïsche ruimte in de schedelbeenderen, hypocalciëmie als gevolg van hypoparathyreoïdie, kleine handen en voeten, vertraagde mentale en motorische ontwikkeling, intellectuele gebreken, gebitsanomalieën, en dysmorfe kenmerken, waaronder prominent voorhoofd, kleine en diepliggende ogen, snavelvormige neus, en micrognathie."},"pt":{"name":"Síndrome Kenny-Caffey autossómica recessiva"},"pl":{"name":"Autosomalny recesywny zespół Kenny i Caffey"},"cs":{"name":"Autozomálně recesivní Kennyův-Caffeyův syndrom","synonyms":["Autozomálně recesivní Kenny-Caffeyův syndrom"]},"uk":{"name":"Аутосомно-рецесивний синдром Кенні-Каффі","definition":"A rare, primary bone dysplasia characterized by prenatal and postnatal growth retardation, short stature, cortical thickening and medullary stenosis of the long bones, absent diploic space in the skull bones, hypocalcemia due to the hypoparathyroidism, small hands and feet, delayed mental and motor development, intellectual disability, dental anomalies, and dysmorphic features, including prominent forehead, small deep-set eyes, beaked nose, and micrognathia."},"zh":{"name":"常染色体隐性遗传性Kenny-Caffey综合征","definition":"一种罕见的原发性骨发育不良，其特征是产前和产后生长迟缓、身材矮小、骨皮质增厚和长骨髓腔狭窄、颅骨板障缺失、甲状旁腺机能减退引起的低钙血症、手脚小、智力和运动发育迟缓、智力障碍、牙齿异常、面部畸形包括前额突出、眼小而深凹，喙鼻和小颌。"},"tr":{"name":"Otozomal resesif Kenny-Caffey sendromu"}},"xrefs":[{"source":"OMIM","code":"244460","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.D","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"740581484"},{"source":"MONDO","code":"0009486","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537021","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1855648","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"8367","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":2333,"name":"Kenny-Caffey syndrome","classifications":[147,156,193,199]}],"children":[],"genes":[{"symbol":"TBCE","name":"tubulin folding cofactor E","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"12389028[PMID]","hgnc":"11582","ensembl":"ENSG00000284770","omim":"604934","loci":["1q42.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-10-23","source":"12389028[PMID]_1308349[PMID]_2843457[PMID]_23087875[PMID]","terms":[{"hpo":"HP:0008198","label":"Congenital hypoparathyroidism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002901","label":"Hypocalcemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002199","label":"Hypocalcemic seizures","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005450","label":"Calvarial osteosclerosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000670","label":"Carious teeth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005791","label":"Cortical thickening of long bone diaphyses","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004331","label":"Decreased skull ossification","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000270","label":"Delayed cranial suture closure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002750","label":"Delayed skeletal maturation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000293","label":"Full cheeks","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003472","label":"Hypocalcemic tetany","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008897","label":"Postnatal growth retardation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001773","label":"Short foot","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200055","label":"Small hand","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100254","label":"Stenosis of the medullary cavity of the long bones","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006645","label":"Thin clavicles","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006470","label":"Thin long bone diaphyses","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000883","label":"Thin ribs","frequency":"Frequent (79-30%)","criteria":null}]}}