{"orpha":53691,"name":"Congenital cornea plana","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare developmental defect of the eye characterized by usually bilateral absence of the normal protrusion of the cornea from the sclera, the corneal curvature being the same as that of the adjacent sclera. Most patients develop hyperopia, hazy corneal limbus, and arcus lipoides at an early age. The condition may present as an autosomal dominant or an autosomal recessive form, with the latter showing more severe signs and symptoms (such as a round and opaque thickening located centrally in the cornea) and more frequent association with other ocular anomalies.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-53691/","orphanet_url":"https://www.orpha.net/en/disease/detail/53691","names":{"fr":{"name":"Cornea plana congénitale","definition":"Anomalie rare de développement de l'oeil, caractérisée par une absence généralement bilatérale de la saillie normale de la cornée par rapport à la sclérotique, la courbure de la cornée étant la même que celle de la sclérotique adjacente. La plupart des patients développent une hypermétropie, un limbe cornéen opaque et un arc cornéen à un âge précoce. La maladie peut se présenter sous une forme autosomique dominante ou autosomique récessive, cette dernière présentant des signes et des symptômes plus sévères (à savoir, un épaississement rond et opaque situé au centre de la cornée) et une association plus fréquente avec d'autres anomalies oculaires."},"de":{"name":"Cornea plana, kongenitale","definition":"Eine seltene Entwicklungsstörung des Auges, die durch das meist beidseitige Fehlen der normalen Vorwölbung der Hornhaut aus der Sklera gekennzeichnet ist, wobei die Hornhautkrümmung derjenigen der angrenzenden Sklera entspricht. Die meisten Patienten entwickeln bereits in jungen Jahren Hyperopie, einen trüben Hornhautlimbus und einen Arcus lipoides. Die Erkrankung kann autosomal-dominant oder autosomal-rezessiv vererbt werden, wobei letztere schwerwiegendere Anzeichen und Symptome (z. B. eine runde und undurchsichtige Verdickung in der Mitte der Hornhaut) aufweist und häufiger mit anderen okulären Anomalien einhergeht."},"es":{"name":"Córnea plana congénita","definition":"Es un defecto poco frecuente del desarrollo ocular caracterizado por la ausencia generalmente bilateral de la protuberancia normal de la córnea desde la esclerótica, siendo la curvatura corneal la misma que la de la esclerótica adyacente. La mayoría de los pacientes desarrolla hipermetropía, turbidez del limbo corneal y arco lipoide a una edad temprana. Esta entidad puede presentarse como una forma autosómica dominante o autosómica recesiva, exhibiendo esta última signos y síntomas más graves (como un engrosamiento redondeado y opaco localizado centralmente en la córnea) y una asociación más frecuente con otras anomalías oculares."},"it":{"name":"Cornea piana congenita","definition":"Si tratta di un difetto raro dello sviluppo dell'occhio, caratterizzato dall'agenesia, di solito bilaterale, della normale sporgenza della cornea dalla sclera, con una curvatura della cornea uguale a quella della sclera adiacente. La maggior parte dei pazienti presenta ipermetropia, limbo corneale opaco e arcus lipoides precoce. La trasmissione della malattia è autosomica dominante o autosomica recessiva; quest'ultima si associa a un quadro clinico più grave (ispessimento rotondo e opaco localizzato nella porzione centrale della cornea) spesso in presenza di altre anomalie oculari."},"nl":{"name":"Congenitale cornea plana","definition":"Een zeldzaam ontwikkelingsdefect van oog, gekarakteriseerd door meestal bilaterale afwezigheid van de normale protrusie van hoornvlies uit sclera, waarbij de kromming van cornea dezelfde is dan die van aangrenzende sclera. De meeste patiënten ontwikkelen hyperopie, wazige limbus corneae, en arcus lipoides op vroege leeftijd. De aandoening kan aanwezig zijn als een autosomaal dominante of een autosomaal recessieve vorm, waarvan de laatste ernstigere verschijnselen en symptomen vertoont (zoals een ronde en troebele verdikking centraal gesitueerd in hoornvlies) en ook vaker associatie met andere ooganomalieën."},"pt":{"name":"Córnea plana congénita"},"pl":{"name":"Wrodzona rogówka płaska"},"cs":{"name":"Cornea plana congenita"},"uk":{"name":"Вроджена вада розвитку рогівки","definition":"A rare developmental defect of the eye characterized by usually bilateral absence of the normal protrusion of the cornea from the sclera, the corneal curvature being the same as that of the adjacent sclera. Most patients develop hyperopia, hazy corneal limbus, and arcus lipoides at an early age. The condition may present as an autosomal dominant or an autosomal recessive form, with the latter showing more severe signs and symptoms (such as a round and opaque thickening located centrally in the cornea) and more frequent association with other ocular anomalies."},"zh":{"name":"先天性扁平角膜"},"tr":{"name":"Doğumsal kornea plana"}},"xrefs":[{"source":"OMIM","code":"121400","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"217300","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q13.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LA11.1","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"262157734"},{"source":"MONDO","code":"0018888","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0344529","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":98553,"name":"Developmental defect of the eye","classifications":[147]},{"orpha":183557,"name":"Genetic developmental defect of the eye","classifications":[156]},{"orpha":519282,"name":"Rare corneal disorder","classifications":[189]},{"orpha":522556,"name":"Rare genetic corneal disorder","classifications":[156]},{"orpha":98621,"name":"Rare hyperopia and astigmatism","classifications":[156,189]}],"children":[],"genes":[{"symbol":"KERA","name":"keratocan","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"10802664[PMID]","hgnc":"6309","ensembl":"ENSG00000139330","omim":"603288","loci":["12q21.33"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":55.0,"area":"Worldwide","status":"Validated","source":"24303778[PMID]_17558846[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"24303778[PMID]_17558846[PMID]_ORPHANET"}],"phenotypes":null}