{"orpha":2789,"name":"Lateral meningocele syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Lehman syndrome"],"definition":"A rare genetic neurological disorder characterized by multiple lateral meningoceles, distinctive facial dysmorphism (including hypertelorism, downslanting palpebral fissures, posteriorly rotated ears, micrognathia, and high, narrow palate, among others), and skeletal abnormalities (e. g. vertebral anomalies, wormian bones, short stature, and scoliosis). Multiple additional features may present, such as conductive hearing impairment, hypotonia, and connective tissue and urogenital abnormalities. Cognition is usually normal.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2789/","orphanet_url":"https://www.orpha.net/en/disease/detail/2789","names":{"fr":{"name":"Syndrome de méningocèle latérale","synonyms":["Syndrome de Lehman"],"definition":"Trouble neurologique génétique rare caractérisé par de multiples méningocèles latéraux, une dysmorphie faciale caractéristique (notamment hypertélorisme, fentes palpébrales inclinées vers le bas, rotation postérieure des oreilles, micrognathie et palais ogival) et des anomalies squelettiques (par exemple, anomalies vertébrales, os wormiens, petite taille et scoliose). De multiples autres anomalies peuvent être présentes, à savoir, une perte auditive de transmission, une hypotonie et des anomalies du tissu conjonctif et urogénitales. Les fonctions cognitives sont généralement normales."},"de":{"name":"Syndrom der lateralen Meningozele","synonyms":["Lehman-Syndrom"],"definition":"Eine genetisch bedingte seltene neurologische Störung, die durch multiple laterale Meningozelen, ausgeprägte Gesichtsdysmorphien (u. a. Hypertelorismus, schräg abwärts verlaufende Lidspalten, nach hinten gedrehte Ohren, Mikrognathie und hoher, schmaler Gaumen) und Skelettanomalien (z. B. Wirbelsäulenanomalien, Wormsche Knochen, Kleinwuchs und Skoliose) gekennzeichnet ist. Es können zahlreiche zusätzliche Merkmale auftreten, wie z. B. Schallleitungsschwerhörigkeit, Hypotonie, Bindegewebs- und Urogenitalanomalien. Die Kognition ist in der Regel normal."},"es":{"name":"Síndrome del meningocele lateral","synonyms":["Síndrome de Lehman"],"definition":"Es un trastorno neurológico, de origen genético y poco frecuente, caracterizado por meningoceles laterales múltiples, dismorfia facial distintiva (incluyendo hipertelorismo, fisuras palpebrales inclinadas hacia abajo, orejas rotadas posteriormente, micrognatia y paladar ojival y estrecho, entre otros) y anomalías esqueléticas (p. ej., anomalías vertebrales, huesos wormianos, talla baja y escoliosis). El síndrome puede presentar múltiples hallazgos adicionales, tales como deficiencia auditiva de conducción, hipotonía y anomalías urogenitales y del tejido conectivo. Por lo general, la cognición es normal."},"it":{"name":"Sindrome del meningocele laterale","synonyms":["Sindrome di Lehman"],"definition":"Si tratta di una malattia neurologica rara, di origine genetica, caratterizzata da meningoceli laterali multipli, dismorfismi facciali (ipertelorismo, rime palpebrali oblique verso il basso, orecchie ruotate posteriormente, micrognazia, palato stretto e ogivale) e anomalie scheletriche (ad es. difetti delle vertebre, ossa wormiane, bassa statura e scoliosi). I pazienti possono presentare anche sordità di conduzione, ipotonia e anomalie del tessuto connettivo e del tratto urogenitale. Di solito l'intelligenza è normale."},"nl":{"name":"Laterale meningocele-syndroom","synonyms":["Syndroom van Lehman"],"definition":"Een zeldzame, genetische neurologische aandoening, gekenmerkt door meerdere laterale meningoceles, kenmerkende faciale dysmorfie (met onder meer hypertelorisme, schuin naar beneden hellende ooglidspleten, naar achteren gedraaide oren, micrognathie, en hoog en smal verhemelte), en skeletanomalieën (e.g. vertebrale anomalieën, Wormiaanse botstructuren, kleine gestalte, en scoliose). Meerdere bijkomende kenmerken kunnen aanwezig zijn, zoals conductieve slechthorendheid, hypotonie, en afwijkingen van bindweefsel en urogenitaal stelsel. Cognitie is meestal normaal."},"pt":{"name":"Síndrome de meningocelo lateral","synonyms":["Síndrome Lehman"]},"pl":{"name":"Zespół bocznej przepukliny oponowej","synonyms":["Zespół Lehmana"]},"cs":{"name":"Syndrom laterální meningokély","synonyms":["Lehmanův syndrom"]},"uk":{"name":"Синдром латерального менінгоцеле","synonyms":["Синдром Лемана"],"definition":"A rare genetic neurological disorder characterized by multiple lateral meningoceles, distinctive facial dysmorphism (including hypertelorism, downslanting palpebral fissures, posteriorly rotated ears, micrognathia, and high, narrow palate, among others), and skeletal abnormalities (e. g. vertebral anomalies, wormian bones, short stature, and scoliosis). Multiple additional features may present, such as conductive hearing impairment, hypotonia, and connective tissue and urogenital abnormalities. Cognition is usually normal."},"zh":{"name":"外侧脑膜膨出综合征","synonyms":["Lehman综合征"]},"tr":{"name":"Lateral meningosel sendromu","synonyms":["Lehman sendromu"]}},"xrefs":[{"source":"OMIM","code":"130720","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LA07.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1652913179"},{"source":"MONDO","code":"0007537","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537878","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1851710","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9873","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":268843,"name":"Malformation of the neurenteric canal, spinal cord and column","classifications":[147,156,181]}],"children":[],"genes":[{"symbol":"NOTCH3","name":"notch receptor 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"25394726[PMID]","hgnc":"7883","ensembl":"ENSG00000074181","omim":"600276","loci":["19p13.12"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":14.0,"area":"Worldwide","status":"Validated","source":"23696373[PMID]_24311540[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-09-25","source":null,"terms":[{"hpo":"HP:0000413","label":"Atresia of the external auditory canal","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000405","label":"Conductive hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000268","label":"Dolichocephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100775","label":"Dural ectasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002705","label":"High, narrow palate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000272","label":"Malar flattening","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002435","label":"Meningocele","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000275","label":"Narrow face","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002645","label":"Wormian bones","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003312","label":"Abnormal form of the vertebral bodies","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004452","label":"Abnormality of the middle ear ossicles","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004493","label":"Craniofacial hyperostosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000678","label":"Dental crowding","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000023","label":"Inguinal hernia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002162","label":"Low posterior hairline","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000767","label":"Pectus excavatum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005487","label":"Prominent metopic ridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000319","label":"Smooth philtrum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001537","label":"Umbilical hernia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002308","label":"Chiari malformation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003307","label":"Hyperlordosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000612","label":"Iris coloboma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002808","label":"Kyphosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000520","label":"Proptosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003396","label":"Syringomyelia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Occasional (29-5%)","criteria":null}]}}