{"orpha":93325,"name":"Autosomal dominant Kenny-Caffey syndrome","type":"Etiological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare, primary bone dysplasia characterized by severe growth retardation, short stature, cortical thickening and medullary stenosis of long bones, delayed closure of the anterior fontanelle, absent diploic space in the skull bones, prominent forehead, macrocephaly, dental anomalies, eye problems (hypermetropia and pseudopapilledema), and hypocalcemia due to hypoparathyroidism, sometimes resulting in convulsions. Intelligence is normal.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-93325/","orphanet_url":"https://www.orpha.net/en/disease/detail/93325","names":{"fr":{"name":"Syndrome de Kenny-Caffey autosomique dominant","definition":"Dysplasie osseuse primaire rare, caractérisée par un retard de croissance sévère, une petite taille, un épaississement cortical et une sténose médullaire des os longs, un retard de fermeture de la fontanelle antérieure, une absence d'espace diploïque au niveau des os du crâne, un front proéminent, une macrocéphalie, des anomalies dentaires, des anomalies oculaires (hypermétropie et pseudo-oedème papillaire) et une hypocalcémie due à une hypoparathyroïdie, entraînant parfois des convulsions. L'intelligence est normale."},"de":{"name":"Kenny-Caffey-Syndrom, autosomal-dominantes","definition":"Eine primäre Knochendysplasie, die gekennzeichnet ist durch schwere Wachstumsverzögerung, Kleinwuchs, kortikale Verdickung und medulläre Stenose der Röhrenknochen, verzögerten Verschluss der vorderen Fontanelle, fehlenden diploischen Raum in den Schädelknochen, prominente Stirn, Makrozephalie, Zahnanomalien, Augenprobleme (Hypermetropie und Pseudopapillenödem) und Hypokalzämie aufgrund von Hypoparathyreoidismus (gelegentlich in Krämpfen resultierend). Die Intelligenz ist normal."},"es":{"name":"Síndrome de Kenny-Caffey autosómico dominante","definition":"Es una displasia ósea primaria poco frecuente caracterizada por grave retraso del crecimiento, talla baja, engrosamiento cortical y estenosis medular de los huesos largos, retraso del cierre de la fontanela anterior, ausencia de espacio diploico en la bóveda craneal, frente prominente, macrocefalia, anomalías dentales, problemas oculares ( hipermetropía y pseudopapiledema), e hipocalcemia por hipoparatiroidismo, que en ocasiones resulta en convulsiones. La inteligencia es normal."},"it":{"name":"Sindrome di Kenny-Caffey autosomica dominante","definition":"È una displasia scheletrica primitiva rara, caratterizzata da grave ritardo della crescita, bassa statura, ispessimento corticale e stenosi midollare delle ossa lunghe, ritardo nella chiusura della fontanella anteriore, assenza dello spazio diploico nelle ossa del cranio, fronte prominente, macrocefalia, anomalie dei denti, problemi oculari (ipermetropia e pseudopapilledema) e ipocalcemia secondaria all'ipoparatiroidismo, che talvolta causa convulsioni. L'intelligenza è normale."},"nl":{"name":"Autosomaal dominant Kenny-Caffeysyndroom","definition":"Een zeldzame, primaire botdysplasie die gekarakteriseerd wordt door ernstige groeiretardatie, kleine gestalte, corticale verdikking en medullaire stenose van pijpbeenderen, vertraagde sluiting van voorste fontanel, afwezige diploïsche ruimte in schedelbeenderen, prominent voorhoofd, macrocefalie, gebitsanomalieën, oogproblemen (hypermetropie en pseudopapiloedeem), en hypocalciëmie als gevolg van hypoparathyreoïdie, soms met convulsies tot gevolg. De intelligentie is normaal."},"pt":{"name":"Síndrome Kenny-Caffey autossómica dominante"},"pl":{"name":"Autosomalny dominujący zespół Kenny i Caffey"},"cs":{"name":"Autozomálně dominantní Kennyův-Caffeyův syndrom","synonyms":["Autozomálně dominantní Kenny-Caffeyův syndrom"]},"uk":{"name":"Аутосомно-домінантний синдром Кенні-Каффі","definition":"A rare, primary bone dysplasia characterized by severe growth retardation, short stature, cortical thickening and medullary stenosis of long bones, delayed closure of the anterior fontanelle, absent diploic space in the skull bones, prominent forehead, macrocephaly, dental anomalies, eye problems (hypermetropia and pseudopapilledema), and hypocalcemia due to hypoparathyroidism, sometimes resulting in convulsions. Intelligence is normal."},"zh":{"name":"常染色体显性遗传性Kenny-Caffey综合征","definition":"一种罕见的原发性骨发育不良，其特征是严重生长迟缓、身材矮小、骨皮质增厚和长骨髓腔狭窄、前囟门延迟闭合、颅骨板障缺失、前额突出、大头畸形、牙齿异常、眼睛问题（远视和假性视乳头水肿），甲状旁腺机能减退所致低钙血症，有时可导致抽搐。智力正常。"},"tr":{"name":"Otozomal dominant Kenny-Caffey sendromu"}},"xrefs":[{"source":"OMIM","code":"127000","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":"1896609431"},{"source":"MONDO","code":"0007478","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5681457","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"83","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":"FAM111A","name":"FAM111 trypsin like peptidase A","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23684011[PMID]","hgnc":"24725","ensembl":"ENSG00000166801","omim":"615292","loci":["11q12.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood"],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-10-23","source":"1308349[PMID]_6023894[PMID]_5322798[PMID]_444124[PMID]_6342392[PMID]_3746537[PMID]_3381667[PMID]","terms":[{"hpo":"HP:0005791","label":"Cortical thickening of long bone diaphyses","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000270","label":"Delayed cranial suture closure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100254","label":"Stenosis of the medullary cavity of the long bones","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030346","label":"Abnormal circulating follicle-stimulating hormone level","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001903","label":"Anemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002135","label":"Basal ganglia calcification","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007633","label":"Bilateral microphthalmos","frequency":"Frequent (79-30%)","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:0008198","label":"Congenital hypoparathyroidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004331","label":"Decreased skull ossification","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008734","label":"Decreased testicular size","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002750","label":"Delayed skeletal maturation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000540","label":"Hypermetropia","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0002905","label":"Hyperphosphatemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002199","label":"Hypocalcemic seizures","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:0001085","label":"Papilledema","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008897","label":"Postnatal growth retardation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005490","label":"Postnatal macrocephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011220","label":"Prominent forehead","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007862","label":"Retinal calcification","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006470","label":"Thin long bone diaphyses","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001620","label":"Abnormally high-pitched voice","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000519","label":"Developmental cataract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006335","label":"Persistence of primary teeth","frequency":"Occasional (29-5%)","criteria":null}]}}