{"orpha":568,"name":"Microphthalmia, Lenz type","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Lenz microphthalmia"],"definition":"A rare X-linked inherited form of syndromic microphthalmia characterized by unilateral or bilateral microphthalmia (and/or clinical anophthalmia) with or without coloboma in addition to a range of extraocular manifestations such as microcephaly, malformed ears, dental abnormalities (i.e. irregular shape of incisors), skeletal anomalies (duplicated thumbs, syndactyly, clinodactyly, camptodactyly), urogenital anomalies (hypospadias, cryptorchidism, renal dysgenesis, hydroureter) and mild to severe intellectual disability. It is allelic to two disorders: oculofaciocardiodental syndrome and premature aging appearance-developmental delay-cardiac arrhythmia syndrome.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-568/","orphanet_url":"https://www.orpha.net/en/disease/detail/568","names":{"fr":{"name":"Microphtalmie type Lenz","synonyms":["Microphtalmie de Lenz"],"definition":"Forme héréditaire rare liée à l'X de microphtalmie syndromique, caractérisée par une microphtalmie unilatérale ou bilatérale (et/ou une anophtalmie clinique), avec ou sans colobome associé à un spectre de manifestations extra-oculaires, telles qu'une microcéphalie, des oreilles mal formées, des anomalies dentaires (i.e. forme irrégulière des incisives), des anomalies squelettiques (pouces dupliqués, syndactylie, clinodactylie, camptodactylie), des anomalies urogénitales (hypospadias, cryptorchidie, dysgénésie rénale, hydro-uretère) et une déficience intellectuelle modérée à sévère. Le syndrome de microphtalmie type Lenz est allélique de deux maladies : le syndrome oculo-facio-cardio-dentaire et le syndrome d'aspect progérioïde-retard de développement-arythmie cardiaque."},"de":{"name":"Mikrophthalmie Typ Lenz","synonyms":["Lenz-Mikrophthalmie"],"definition":"Eine X-chromosomal vererbte Form der syndromalen Mikrophthalmie mit einseitiger oder beidseitiger Mikrophthalmie (und/oder klinische Anophthalmie) mit oder ohne Kolobom. Weitere extraokuläre Manifestationen sind Mikrozephalie, Fehlbildungen der Ohren, Zahnanomalien (unregelmäßige Form der Schneidezähne), Skelettanomalien (Doppeldaumen, Syndaktylie, Klinodaktylie, Kamptodaktylie), urogenitale Anomalien (Hypospadie, Kryptorchismus, Nierenfehlentwicklung, Hydroureter) und leichte bis schwere Intelligenzminderung. Die Krankheit ist allelisch mit dem okulo-fazio-kardio-dentalen Syndrom und dem Ogden-Syndrom."},"es":{"name":"Microftalmia tipo Lenz","synonyms":["Microftalmia de Lenz"],"definition":"Es una forma poco frecuente de microftalmía sindrómica hereditaria ligada al cromosoma X caracterizada por microftalmía uni- o bilateral (y/o anoftalmía clínica) con o sin coloboma, además de una serie de manifestaciones extraoculares como microcefalia, orejas malformadas, anomalías dentales (como incisivos de forma irregular ), anomalías esqueléticas (pulgares duplicados, sindactilia, clinodactilia, camptodactilia), anomalías urogenitales (hipospadias, criptorquidia, disgenesia renal, hidrouréter) y discapacidad intelectual de leve a grave. Es alélica de dos trastornos: el síndrome oculofaciocardiodental y el síndrome de aspecto envejecido prematuro-retraso del desarrollo-arritmia cardiaca."},"it":{"name":"Microftalmia, tipo Lenz","synonyms":["Microftalmia di Lenz"]},"nl":{"name":"Microftalmie, Lenz-type","synonyms":["Lenz microftalmie","Syndromale microftalmie type 1"],"definition":"Een zeldzame X-gebonden erfelijke vorm van syndromale microftalmie, gekenmerkt door unilaterale of bilaterale microftalmie (en/of klinische anoftalmie) met of zonder coloboom bovenop een reeks extraoculaire manifestaties zoals microcefalie, misvormde oren, dentale afwijkingen (onregelmatige vorm van snijtanden), skeletanomalieën (gedupliceerde duim, syndactylie, clinodactylie, camptodactylie), urogenitale anomalieën (hypospadie, cryptorchisme, dysgenesie van nier, hydro-ureter), en milde tot ernstige intellectuele achterstand. Het is allelisch met twee aandoeningen: oculofaciocardiodentaal syndroom en vroegtijdige uiterlijke veroudering - ontwikkelingsachterstand - hartritmestoornis-syndroom."},"pt":{"name":"Microftalmia, tipo Lenz","synonyms":["Microftalmia de Lenz"]},"pl":{"name":"Mikroftalmia typu Lenza","synonyms":["Mikroftalmia Lenza"],"definition":"Rzadka, sprzężona z chromosomem X, dziedziczna postać mikroftalmii syndromicznej, charakteryzująca się jednostronnym lub obustronnym małooczem (i/lub klinicznym bezoczem), z colobomą lub bez, oraz licznymi objawami pozaocznymi, takimi jak małogłowie, zniekształcone małżowiny uszne, nieprawidłowości zębów (tj. nieregularny kształt siekaczy ), wady szkieletu (podwójne kciuki, syndaktylia, klinodaktylia, kamptodaktylia), wady układu moczowo-płciowego (spodziectwo, wnętrostwo, dysgenezja nerek, wodniak moczowodu) oraz niepełnosprawność intelektualna od lekkiej do ciężkiej. Jest alleliczna dla dwóch zespołów: oczno-twarzowo-sercowo-zębowego oraz przedwczesnego starzenia-opóźnienia rozwoju-zaburzeń rytmu serca."},"cs":{"name":"Mikroftalmie, Lenzův typ","synonyms":["Lenzova mikroftalmie"]},"uk":{"name":"Мікрофтальмія, тип Ленца","synonyms":["Мікрофтальмія Ленца"],"definition":"A rare X-linked inherited form of syndromic microphthalmia characterized by unilateral or bilateral microphthalmia (and/or clinical anophthalmia) with or without coloboma in addition to a range of extraocular manifestations such as microcephaly, malformed ears, dental abnormalities (i.e. irregular shape of incisors), skeletal anomalies (duplicated thumbs, syndactyly, clinodactyly, camptodactyly), urogenital anomalies (hypospadias, cryptorchidism, renal dysgenesis, hydroureter) and mild to severe intellectual disability. It is allelic to two disorders: oculofaciocardiodental syndrome and premature aging appearance-developmental delay-cardiac arrhythmia syndrome."},"zh":{"name":"小眼畸形，Lenz型","synonyms":["Lenz小眼畸形"]},"tr":{"name":"Mikroftalmi, Lenz tipi","synonyms":["Lenz mikroftalmisi"]}},"xrefs":[{"source":"OMIM","code":"300166","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"OMIM","code":"309800","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q11.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD21.0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"678242327"},{"source":"MONDO","code":"0018924","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537464","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0796016","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"87","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":98655,"name":"Lens shape anomaly","classifications":[147,156,189]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":202948,"name":"Syndromic microphthalmia-anophthalmia-coloboma","classifications":[147,156,189]}],"children":[],"genes":[{"symbol":"BCOR","name":"BCL6 corepressor","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301694[PMID]_15004558[PMID]","hgnc":"20893","ensembl":"ENSG00000183337","omim":"300485","loci":["Xp11.4"]},{"symbol":"NAA10","name":"N-alpha-acetyltransferase 10, NatA catalytic subunit","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24431331[PMID]","hgnc":"18704","ensembl":"ENSG00000102030","omim":"300013","loci":["Xq28"]}],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000568","label":"Microphthalmia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006482","label":"Abnormal dental morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000377","label":"Abnormal pinna morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000164","label":"Abnormality of the dentition","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100490","label":"Camptodactyly of finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000567","label":"Chorioretinal coloboma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009943","label":"Complete duplication of thumb phalanx","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006101","label":"Finger syndactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000501","label":"Glaucoma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000126","label":"Hydronephrosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000072","label":"Hydroureter","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000047","label":"Hypospadias","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000612","label":"Iris coloboma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000482","label":"Microcornea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000588","label":"Optic disc coloboma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000202","label":"Orofacial cleft","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008678","label":"Renal hypoplasia/aplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002167","label":"Abnormality of speech or vocalization","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000889","label":"Abnormality of the clavicle","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003043","label":"Abnormality of the shoulder","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009755","label":"Ankyloblepharon","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007370","label":"Aplasia/Hypoplasia of the corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000684","label":"Delayed eruption of teeth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003307","label":"Hyperlordosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002808","label":"Kyphosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100818","label":"Long thorax","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000384","label":"Preauricular skin tag","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:0100716","label":"Self-injurious behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000465","label":"Webbed neck","frequency":"Occasional (29-5%)","criteria":null}]}}