{"orpha":2333,"name":"Kenny-Caffey syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Kenny syndrome"],"definition":"A rare primary bone dysplasia syndrome characterized by growth retardation with proportionate short stature, cortical thickening and medullary stenosis of the long bones, delayed anterior fontanelle closure, hypocalcemia due to congenital hypoparathyroidism and facial dysmorphism, including prominent forehead, microphthalmia, and micrognathia. Additional manifestations include ocular and dental anomalies (e.g. corneal opacity, hyperopia, optic atrophy, tortuous retinal vessels, dental caries, enamel defects) and, occasionally, hypoplastic nails and neonatal liver disease. Inheritance may be autosomal dominant or autosomal recessive, with more severe growth retardation, small hands and feet, intellectual disability, microcephaly and recurrent bacterial infections being observed in the latter.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2333/","orphanet_url":"https://www.orpha.net/en/disease/detail/2333","names":{"fr":{"name":"Syndrome de Kenny-Caffey","synonyms":["Syndrome de Kenny"],"definition":"Syndrome rare de dysplasie osseuse primaire caractérisé par un retard de croissance et une petite taille bien proportionnée, un épaississement cortical et une sténose médullaire des os longs, un retard de fermeture de la fontanelle antérieure, une hypocalcémie due à une hypoparathyroïdie congénitale et une dysmorphie faciale (front proéminent, microphtalmie et micrognathie). Parmi les autres manifestations figurent des anomalies oculaires et dentaires (par exemple, opacité de la cornée, hypermétropie, atrophie optique, tortuosité des vaisseaux de la rétine, caries dentaires, défauts de l'émail) et, plus rarement, une hypoplasie des ongles et une maladie hépatique néonatale. La maladie peut se transmettre sur le mode autosomique dominant ou autosomique récessif. Dans ce dernier cas, on observe un retard de croissance plus sévère, des mains et des pieds de petite taille, une déficience intellectuelle, une microcéphalie et des infections bactériennes récurrentes."},"de":{"name":"Kenny-Caffey-Syndrom","synonyms":["Kenny-Syndrom"],"definition":"Ein seltene syndromale Form der primären Knochendysplasie, die durch eine Wachstumsverzögerung mit proportionaler Kleinwüchsigkeit, kortikale Verdickung und medulläre Stenose der Röhrenknochen, verzögerten vorderen Fontanellenschluss, Hypokalzämie aufgrund eines kongenitalen Hypoparathyreoidismus und Gesichtsdysmorphien, einschließlich prominenter Stirn, Mikrophthalmie und Mikrognathie gekennzeichnet ist. Zu den zusätzlichen Manifestationen gehören Augen- und Zahnanomalien (z. B. Hornhauttrübung, Hyperopie, Optikusatrophie, gewundene Netzhautgefäße, Zahnkaries, Zahnschmelzdefekte) und gelegentlich hypoplastische Nägel und neonatale Lebererkrankungen. Die Vererbung kann autosomal-dominant oder autosomal-rezessiv erfolgen, wobei bei letzteren eine stärkere Wachstumsverzögerung, kleine Hände und Füße, Intelligenzminderung, Mikrozephalie und wiederkehrende bakterielle Infektionen beobachtet werden."},"es":{"name":"Síndrome de Kenny-Caffey","synonyms":["Síndrome de Kenny"],"definition":"Es una displasia ósea primaria poco frecuente caracterizada por retraso del crecimiento con talla baja proporcionada, engrosamiento cortical y estenosis medular de los huesos largos, cierre tardío de la fontanela anterior, hipocalcemia por hipoparatiroidismo congénito y dismorfia facial, incluyendo frente prominente, microftalmia y micrognatia. Otros hallazgos adicionales incluyen anomalías oculares y dentales (p. ej. opacificación corneal, hipermetropía, atrofia óptica, vasos retinianos tortuosos, caries dentales, defectos del esmalte) y, ocasionalmente, uñas hipoplásicas y enfermedad hepática neonatal. El modo de herencia puede ser autosómico dominante o autosómico recesivo, observándose en este último un mayor retraso del crecimiento, manos y pies pequeños, discapacidad intelectual, microcefalia e infecciones bacterianas recurrentes."},"it":{"name":"Sindrome di Kenny-Caffey","synonyms":["Sindrome di Kenny"],"definition":"È una displasia scheletrica primitiva rara, caratterizzata da ritardo della crescita con bassa statura sproporzionata, ispessimento corticale e stenosi midollare delle ossa lunghe, chiusura ritardata della fontanella anteriore, ipocalcemia da ipoparatiroidismo congenito e dismorfismi facciali (fronte prominente, microftalmia e micrognazia). Altri segni clinici sono le anomalie degli occhi e dei denti (ad es. opacità corneali, iperopia, atrofia ottica, tortuosità dei vasi retinici, carie dentali e difetti dello smalto). Occasionalmente si associa ad ipoplasia delle unghie ed epatopatia neonatale. La trasmissione è autosomica dominate o autosomica recessiva; nel secondo caso si osserva un ritardo della crescita più grave, mani e piedi piccoli, disabilità intellettiva, microcefalia ed infezioni batteriche ricorrenti."},"nl":{"name":"Syndroom van Kenny-Caffey","synonyms":["Syndroom van Kenny"],"definition":"Een zeldzame, syndromale primaire botdysplasie gekarakteriseerd door groeiachterstand met proportioneel kleine gestalte, corticale verdikking en medullaire stenose van de pijpbeenderen, vertraagde sluiting van de voorste fontanel, hypocalciëmie als gevolg van congenitale hypoparathyreoïdie, en faciale dysmorfie, waaronder prominent voorhoofd, microftalmie, en micrognathie. Bijkomende manifestaties zijn onder meer oculaire en dentale anomalieën (e.g. hoornvliestroebeling, hyperopie, opticusatrofie, kronkelige retinale bloedvaten, tandbederf, defecten van het tandglazuur) en, occasioneel, hypoplastische nagels en neonatale leverziekte. De overerving kan autosomaal dominant of autosomaal recessief gebeuren, en bij deze laatste worden een ernstigere groeiretardatie, kleine handen en voeten, intellectuele achterstand, microcefalie en recurrente bacteriële infecties waargenomen."},"pt":{"name":"Síndrome Kenny-Caffey","synonyms":["Síndrome Kenny"]},"pl":{"name":"Zespół Kenny'ego i Caffey'a","synonyms":["Zespół Kenny'ego"]},"cs":{"name":"Kennyho-Caffeyův syndrom","synonyms":["Kennyho syndrom","Kenny-Caffeyův syndrom"]},"uk":{"name":"Синдром Кенні-Кеффі","synonyms":["Синдром Кенні"],"definition":"A rare primary bone dysplasia syndrome characterized by growth retardation with proportionate short stature, cortical thickening and medullary stenosis of the long bones, delayed anterior fontanelle closure, hypocalcemia due to congenital hypoparathyroidism and facial dysmorphism, including prominent forehead, microphthalmia, and micrognathia. Additional manifestations include ocular and dental anomalies (e.g. corneal opacity, hyperopia, optic atrophy, tortuous retinal vessels, dental caries, enamel defects) and, occasionally, hypoplastic nails and neonatal liver disease. Inheritance may be autosomal dominant or autosomal recessive, with more severe growth retardation, small hands and feet, intellectual disability, microcephaly and recurrent bacterial infections being observed in the latter."},"zh":{"name":"Kenny-Caffey综合征","synonyms":["Kenny综合征"]},"tr":{"name":"Kenny-Caffey sendromu","synonyms":["Kenny sendromu"]}},"xrefs":[{"source":"OMIM","code":"127000","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"244460","qualifier":"BTNT","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":"attributed","validated":true},{"source":"MONDO","code":"0016516","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0265291","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10073228","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":183570,"name":"Genetic malformation syndrome with short stature","classifications":[156]},{"orpha":139021,"name":"Malformation syndrome with short stature","classifications":[147]},{"orpha":93440,"name":"Slender bone dysplasia","classifications":[147,156,199]},{"orpha":181402,"name":"Syndrome with hypoparathyroidism","classifications":[156,193]}],"children":[{"orpha":93325,"name":"Autosomal dominant Kenny-Caffey syndrome","type":"Etiological subtype"},{"orpha":93324,"name":"Autosomal recessive Kenny-Caffey syndrome","type":"Etiological subtype"}],"genes":[],"genes_via_subtypes":[{"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"],"via":{"orpha":93325,"name":"Autosomal dominant Kenny-Caffey syndrome"}},{"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"],"via":{"orpha":93324,"name":"Autosomal recessive Kenny-Caffey syndrome"}}],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":65.0,"area":"Worldwide","status":"Validated","source":"22522175[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}