{"orpha":2528,"name":"Microcephaly-microcornea syndrome, Seemanova type","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Seemanova-Lesny syndrome"],"definition":"Microcephaly-microcornea syndrome, Seemanova type is characterised by microcephaly and brachycephaly, eye anomalies (microphthalmia, microcornea, congenital cataract), hypogenitalism, severe intellectual deficit, growth retardation and progressive spasticity. It has been described in two patients (a male and his sister's son). Both patients also presented with facial dysmorphism, including upslanting palpebral fissures, epicanthal folds, highly arched palate, microstomia, and retrognathia. This syndrome is transmitted as an X-linked trait.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2528/","orphanet_url":"https://www.orpha.net/en/disease/detail/2528","names":{"fr":{"name":"Microcéphalie-microcornée type Seemanova","synonyms":["Syndrome de Seemanova-Lesny"],"definition":"Microcéphalie-microcornée type Seemanova est caractérisé par une microcéphalie et une brachycéphalie, des malformations oculaires (microphtalmie, microcornée, cataracte congénitale), un hypogénitalisme, un déficit intellectuel sévère, un retard de croissance et une spasticité progressive. Il a été décrit chez deux patients (un homme et le fils de sa soeur). Les deux patients présentaient également une dysmorphie incluant fentes palpébrales mongoloïdes, épicanthus, palais ogival, microstomie et rétrognathie. Ce syndrome est lié à l'X."},"de":{"name":"Mikrozephalie-Mikrokornea-Syndrom Typ Seemanova","synonyms":["Seemanova-Lesny-Syndrom"],"definition":"Dieses Syndrom ist gekennzeichnet durch Mikrozephalie, Brachydaktylie, Augenanomalien (Mikrophthalmie, Mikrocornea, angeborene Katarakt), Hypogenitalismus, schwere Intelligenzminderung, Wachstumsverzögerung und progrediente spastische Parese. Es wurde bei 2 Patienten (ein Mann und der Sohn seiner Schwester) beschrieben. Beide Patienten hatten auch faziale Dysmorphien (u.a. mongoloide Lidachsen, Epikanthus), einen hohen Gaumen, Mikrostomie und Retrogenie. Wahrscheinlich wird das Syndrom X-chromosomal vererbt."},"es":{"name":"Síndrome de microcefalia-microcórnea, tipo Seemanova","definition":"Es un síndrome caracterizado por microcefalia y braquicefalia, anomalías oculares (microftalmía, microcórnea, cataratas congénitas), hipogenitalismo, discapacidad intelectual grave, retraso del crecimiento y espasticidad progresiva. Se ha descrito en dos pacientes (un hombre y el hijo de su hermana). Ambos pacientes presentaban dismorfia facial, incluyendo fisuras palpebrales ascendentes, pliegues epicánticos, paladar ojival, microstomía y retrognatia. El síndrome se transmite como un rasgo ligado al cromosoma X."},"it":{"name":"Sindrome microcefalia-microcornea, tipo Seemanova","synonyms":["Sindrome di Seemanova-Lesny"]},"nl":{"name":"Microcefalie - microcornea-syndroom, Seemanova-type","synonyms":["Syndroom van Seemanova-Lesny"],"definition":"Microcefalie - microcornea-syndroom, Seemanova-type wordt gekenmerkt door microcefalie en brachycefalie, ooganomalieën (microftalmie, microcornea, congenitaal cataract), hypogenitalisme, ernstige intellectuele achterstand, groeiretardatie, en progressieve spasticiteit. Het werd beschreven bij twee patiënten (een man en de zoon van diens zus). Beide patiënten presenteerden zich ook met faciale dysmorfie, met onder meer opwaarts hellende ooglidspleten, epicanthusplooien, hoog gebogen gehemelte, microstomie, en retrognathie. Dit syndroom wordt overgedragen als een X-gebonden kenmerk."},"pt":{"name":"Síndrome microcefalia-microcórnea, tipo Seemanova","synonyms":["Síndrome Seemanova-Lesny"]},"pl":{"name":"Zespół małogłowia i rogówki małej typu Seemanova","synonyms":["Zespół Seemanova i Lesny"]},"cs":{"name":"Syndrom zahrnující mikrocefalii a mikrokorneu, typ Seemanové","synonyms":["Seemanové-Lesného syndrom"]},"uk":{"name":"Синдром мікроцефалії-мікрокорнеа, тип Сіманова","synonyms":["Синдром Семанова-Лесного"],"definition":"Microcephaly-microcornea syndrome, Seemanova type is characterised by microcephaly and brachycephaly, eye anomalies (microphthalmia, microcornea, congenital cataract), hypogenitalism, severe intellectual deficit, growth retardation and progressive spasticity. It has been described in two patients (a male and his sister's son). Both patients also presented with facial dysmorphism, including upslanting palpebral fissures, epicanthal folds, highly arched palate, microstomia, and retrognathia. This syndrome is transmitted as an X-linked trait."},"zh":{"name":"小头畸形-小角膜综合征Seemanova型","synonyms":["Seemanova-Lesny综合征"]},"tr":{"name":"Mikrosefali-mikrokornea sendromu, Seemanova tipi","synonyms":["Seemanova-Lesny sendromu"]}},"xrefs":[{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD20.2","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1197077842"},{"source":"MONDO","code":"0016760","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537536","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931524","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3627","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":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":269528,"name":"Syndrome with microcephaly as a major feature","classifications":[147,156,181]},{"orpha":98641,"name":"Syndromic cataract","classifications":[189]},{"orpha":522548,"name":"Syndromic genetic cataract","classifications":[156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"8958326[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_8958326[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000248","label":"Brachycephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000135","label":"Hypogonadism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010864","label":"Intellectual disability, severe","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000482","label":"Microcornea","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000568","label":"Microphthalmia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000160","label":"Narrow mouth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002191","label":"Progressive spasticity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000278","label":"Retrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000582","label":"Upslanted palpebral fissure","frequency":"Very frequent (99-80%)","criteria":null}]}}