{"orpha":2479,"name":"Megalocornea-intellectual disability syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["MMR syndrome","Neuhäuser syndrome"],"definition":"Megalocornea-intellectual disability syndrome is a rare intellectual disability syndrome most commonly characterized by megalocornea, congenital hypotonia, varying degrees of intellectual disability, psychomotor/developmental delay, seizures, and mild facial dysmorphism (including round face, frontal bossing, antimongoloid slant of the eyes, epicanthal folds, large low set ears, broad nasal base, anteverted nostrils, and long upper lip). Interfamilial and intrafamilial clinical variability has been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2479/","orphanet_url":"https://www.orpha.net/en/disease/detail/2479","names":{"fr":{"name":"Syndrome de mégalocornée-déficience intellectuelle","synonyms":["Syndrome de Neuhäuser"],"definition":"Le syndrome de mégalocornée-déficience intellectuelle est un syndrome rare de déficit intellectuel, le plus souvent caractérisé par une mégalocornée, une hypotonie congénitale, divers degrés de déficit intellectuel, un retard psychomoteur/de développement, des convulsions et une légère dysmorphie faciale (incluant un visage rond, une bosse frontale, des fentes palpébrales obliques en bas et en dehors, des plis épicanthaux, des oreilles basses implantées, une large base nasale, des narines antéversées et une longue lèvre supérieure). Une variabilité intra- et interfamiliale a été rapportée."},"de":{"name":"Megalokornea-Intelligenzminderung-Syndrom","synonyms":["MMR-Syndrom","Neuhäuser-Syndrom"],"definition":"Ein seltenes Syndrom mit Intelligenzminderung, das am häufigsten durch Megalokornea, kongenitale Hypotonie, unterschiedliche Grade der Intelligenzminderung, psychomotorische Verzögerung/Entwicklungsverzögerung, Krampfanfälle und milde Gesichtsdysmorphie (einschließlich rundem Gesicht, frontalem Buckel, antimongoloider Schrägstellung der Augen, Epikanthusfalten, großen tief angesetzten Ohren, breiter Nasenbasis, antevertierten Nasenlöchern und langer Oberlippe) gekennzeichnet ist. Es wurde über interfamiliäre und intrafamiliäre klinische Variabilität berichtet."},"es":{"name":"Síndrome de megalocórnea-discapacidad intelectual","synonyms":["Síndrome de Neuhäuser"],"definition":"El síndrome de megalocórnea-discapacidad intelectual es un síndrome poco frecuente de discapacidad intelectual caracterizado más comúnmente por megalocórnea, hipotonía congénita, grados variables de discapacidad intelectual, retraso psicomotor/del desarrollo, crisis y rasgos faciales dismórficos leves (incluyendo cara redondeada, abombamiento frontal, inclinación antimongoloide de los ojos, pliegues epicánticos, orejas grandes de implantación baja, base nasal ancha, fosas nasales antevertidas y labio superior alargado). Se ha descrito variabilidad clínica inter- e intrafamiliar."},"it":{"name":"Sindrome megalocornea-disabilità intellettiva","synonyms":["Sindrome MMR","Sindrome di Neuhäuser"],"definition":"La sindrome megalocornea-disabilità intellettiva è una malattia rara caratterizzata di solito da megalocornea, ipotonia congenita, disabilità intellettiva di gravità variabile, ritardo psicomotorio/dello sviluppo, crisi epilettiche e dismorfismi facciali lievi (viso arrotondato, fronte bombata, rime palpebrali oblique in basso e verso l'esterno, epicanto, orecchie grandi e a basso impianto, base del naso larga, narici anteverse e labbro superiore lungo). È stata descritta una variabilità clinica inter- e intra-familiare."},"nl":{"name":"Megalocornea - intellectuele achterstand-syndroom","synonyms":["MMR-syndroom","Syndroom van Neuhäuser"],"definition":"Megalocornea - intellectuele achterstand-syndroom is een zeldzaam syndroom met intellectuele achterstand dat voornamelijk gekarakteriseerd wordt door megalocornea, congenitale hypotonie, variabele gradaties van intellectuele achterstand, ontwikkelings- en psychomotorische achterstand, insulten, en milde faciale dysmorfie (met onder meer een rond gezicht, bol voorhoofd, antimongloïde oogstand, amandelogen, grote laagstaande oren, brede neusbasis, anteversie van de neusgaten, en een lange bovenlip). Er werd inter- en intrafamiliale klinische variabiliteit gerapporteerd."},"pt":{"name":"Síndrome de megalocórnea-perturbação do desenvolvimento intelectual","synonyms":["Síndrome Neuhäuser"]},"pl":{"name":"Zespół rogówki olbrzymiej i niepełnosprawności intelektualnej","synonyms":["Zespół MMR","Zespół Neuhäusera"]},"cs":{"name":"Syndrom zahrnující megalokorneu a mentální retardaci","synonyms":["MMR syndrom","Neuhäuserův syndrom"]},"uk":{"name":"Синдром мегалокорнеа - інтелектуальної недостатності","synonyms":["MMR-синдром","Синдром Нойгаузера"],"definition":"Megalocornea-intellectual disability syndrome is a rare intellectual disability syndrome most commonly characterized by megalocornea, congenital hypotonia, varying degrees of intellectual disability, psychomotor/developmental delay, seizures, and mild facial dysmorphism (including round face, frontal bossing, antimongoloid slant of the eyes, epicanthal folds, large low set ears, broad nasal base, anteverted nostrils, and long upper lip). Interfamilial and intrafamilial clinical variability has been reported."},"zh":{"name":"球形角膜-智力障碍综合征","synonyms":["Neuhäuser综合征"]},"tr":{"name":"Megalokornea-zihinsel yetersizlik sendromu","synonyms":["MMR sendromu","Neuhäuser sendromu"]}},"xrefs":[{"source":"OMIM","code":"249310","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0009577","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536143","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0796086","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3448","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":519288,"name":"Rare disorder with corneal involvement as a major feature","classifications":[189]},{"orpha":522558,"name":"Rare genetic disorder with corneal involvement as a major feature","classifications":[156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":40.0,"area":"Worldwide","status":"Validated","source":"24032289[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"24032289[PMID]_ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0010978","label":"Abnormality of immune system physiology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002167","label":"Abnormality of speech or vocalization","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000485","label":"Megalocornea","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000593","label":"Abnormal anterior chamber morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000733","label":"Abnormal repetitive mannerisms","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002970","label":"Genu varum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007676","label":"Hypoplasia of the iris","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100693","label":"Iridodonesis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002808","label":"Kyphosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010508","label":"Metatarsus valgus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000194","label":"Open mouth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001182","label":"Tapered finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000483","label":"Astigmatism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002353","label":"EEG abnormality","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000232","label":"Everted lower lip vermilion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003124","label":"Hypercholesterolemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000821","label":"Hypothyroidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000938","label":"Osteopenia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000411","label":"Protruding ear","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000322","label":"Short philtrum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009891","label":"Underdeveloped supraorbital ridges","frequency":"Occasional (29-5%)","criteria":null}]}}