{"orpha":401973,"name":"MEND syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Male EBP disorder with neurological defects"],"definition":"A rare, genetic, syndromic, sterol biosynthesis disorder affecting males characterized by skin manifestations, including collodion membrane, ichthyosis, and patchy hypopigmentary lesions, associated with severe neurological involvement (e.g. intellectual disability, delayed psychomotor development, seizures, hydrocephalus, cerebellar/corpus callosum hypoplasia, Dandy-Walker malformation, hypotonia) and craniofacial dysmorphism (large anterior fontanelle, telecanthus, hypertelorism, microphthalmia, prominent nasal bridge, low-set ears, micrognathia, cleft palate). 2,3 toe syndactyly, polydactyly, and kyphosis, as well as ophthalmic, cardiac and urogenital anomalies may also be associated.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-401973/","orphanet_url":"https://www.orpha.net/en/disease/detail/401973","names":{"fr":{"name":"Syndrome MEND","synonyms":["Troubles neurologiques masculins liés à EBP"],"definition":"Anomalie syndromique rare de la biosynthèse du stérol d'origine génétique affectant les hommes, qui se caractérise par des manifestations cutanées, notamment une membrane collodionnée, une ichtyose et des lésions hypopigmentaires sous forme de plaques, associées à une atteinte neurologique sévère (déficience intellectuelle, retard du développement psychomoteur, crises convulsives, hydrocéphalie, hypoplasie du cervelet et du corps calleux, malformation de Dandy-Walker, hypotonie) et une dysmorphie craniofaciale (grande fontanelle antérieure, télécanthus, hypertélorisme, microphtalmie, pont nasal proéminent, oreilles d'implantation basse, micrognathie, fente palatine). La syndactylie des 2<sup>es</sup> et 3<sup>es</sup> orteils, la polydactylie et la cyphose, ainsi que des anomalies ophtalmiques, cardiaques et urogénitales peuvent également être associées."},"de":{"name":"MEND-Syndrom","synonyms":["Männliche EBP-Störung mit neurologischen Defekten"]},"es":{"name":"Síndrome MEND","synonyms":["Trastorno EBP masculino con defectos neurológicos"],"definition":"Es un trastorno genético, sindrómico y poco frecuente, de la biosíntesis de esteroles que afecta a varones. Se caracteriza por manifestaciones cutáneas, tales como membrana colodión, ictiosis y lesiones hipopigmentadas parcheadas asociadas con afectación neurológica grave (p. ej., discapacidad intelectual, retraso del desarrollo psicomotor, convulsiones, hidrocefalia, hipoplasia cerebelosa / del cuerpo calloso, malformación de Dandy-Walker, hipotonía) y dismorfia craneofacial (fontanela anterior agrandada, telecanto, hipertelorismo, microftalmia, puente nasal prominente, orejas de baja implantación, micrognatia, labio leporino). También pueden estar asociadas la sindactilia de los dedos 2 y 3 de los pies, polidactilia y cifosis, así como anomalías oftálmicas, cardíacas y urogenitales."},"it":{"name":"Sindrome MEND","synonyms":["Malattia EBP dei maschi con disturbi neurologici"],"definition":"La sindrome MEND è una malattia genetica rara sindromica della biosintesi degli steroli, che colpisce i maschi ed è caratterizzata da segni cutanei (membrana colloidale, ittiosi, lesioni ipopigmentate a chiazze), associati ad un grave interessamento neurologico (disabilità intellettiva, ritardo dello sviluppo psicomotorio, crisi epilettiche, idrocefalo, ipoplasia del cervelletto/corpo calloso, malformazione di Dandy-Walker, ipotonia) e dismorfismi craniofacciali (fontanella anteriore ampia, telecanto, ipertelorismo, microftalmia, sella nasale prominente, orecchie a basso impianto, micrognazia, palatoschisi). Può associarsi a sindattilia del secondo e terzo dito del piede, polidattilia e cifosi, e ad anomalie oculari, cardiache e urogenitali."},"nl":{"name":"MEND-syndroom","synonyms":["Mannelijke EBP-stoornis met neurologische defecten"],"definition":"MEND-syndroom is een zeldzame, genetische, syndromale stoornis van de sterolbiosynthese die mannen treft, en wordt gekarakteriseerd door manifestaties van de huid, waaronder collodionmembraan, ichthyosis, en onregelmatige gehypopigmenteerde laesies, geassocieerd met ernstige neurologische betrokkenheid (e.g. intellectuele achterstand, vertraagde psychomotorische ontwikkeling, insulten, hydrocefalie, hypoplasie van cerebellum/corpus callosum, Dandy-Walker malformatie, hypotonie) en craniofaciale dysmorfie (grote anterieure fontanel, telecanthus, hypertelorisme, microftalmie, uitgesproken neusbrug, laagstaande oren, micrognathie, gespleten verhemelte). Syndactylie van de 2de en 3de teen, polydactylie, en kyfose, alsook oftalmische, cardiale en urogenitale anomalieën kunnen ook geassocieerd zijn."},"pt":{"name":"Síndrome MEND"},"pl":{"name":"Zespół MEND","synonyms":["Zaburzenie EBP u płci męskiej z objawami neurologicznym"],"definition":"*Zespół MEND to rzadki, genetycznie uwarunkowany zespół zaburzeń biosyntezy steroli, występujący u mężczyzn. Charakteryzuje się objawami skórnymi, w tym obecnością błony przypominającej kolodion, rybią łuską i nieregularnymi zmianami hipopigmentacyjnymi, z towarzyszącymi ciężkim objawami neurologicznym (niepełnosprawność intelektualna, opóźniony rozwój psychoruchowy, drgawki, wodogłowie, hipoplazja móżdżka/ciała modzelowatego, malformacja Dandiego i Walkera, hipotonia) oraz dysmorfią twarzoczaszki (duże ciemiączko przednie, telekantus, hiperteloryzm, małoocze, wydatny grzbiet nosa, nisko osadzone uszy, małożuchwie, rozszczep podniebienia). Towarzyszyć mogą: syndaktylia (palcozrost 2 i 3 palca stopy, polidaktylia (wielopalczastość) i kyfoza, a także wady oczu, serca i układu moczowo-płciowego."},"cs":{"name":"MEND syndrom","synonyms":["Mužská EBP porucha s neurologickými defekty"]},"uk":{"name":"Синдром MEND","synonyms":["Чоловічий розлад EBP з неврологічними дефектами"],"definition":"A rare, genetic, syndromic, sterol biosynthesis disorder affecting males characterized by skin manifestations, including collodion membrane, ichthyosis, and patchy hypopigmentary lesions, associated with severe neurological involvement (e.g. intellectual disability, delayed psychomotor development, seizures, hydrocephalus, cerebellar/corpus callosum hypoplasia, Dandy-Walker malformation, hypotonia) and craniofacial dysmorphism (large anterior fontanelle, telecanthus, hypertelorism, microphthalmia, prominent nasal bridge, low-set ears, micrognathia, cleft palate). 2,3 toe syndactyly, polydactyly, and kyphosis, as well as ophthalmic, cardiac and urogenital anomalies may also be associated."},"zh":{"name":"MEND综合征","synonyms":["男性EBP缺陷伴神经功能缺陷"],"definition":"MEND综合征是一种罕见的，遗传的，综合症性的固醇生物合成障碍疾病，会影响男性，其临床症状包括皮肤表现（火棉胶膜样，鱼鳞病和斑块状色素减退病变），伴有严重的神经系统受累（例如智力残疾，精神运动发育迟缓，癫痫发作，脑积水，小脑 /胼胝体发育不全，Dandy-Walker畸形，肌张力低下）和颅面畸形（前囟大，内眦距离过宽，器官间距过远，小眼症，鼻梁突出，低耳朵，小下颌畸形，唇裂）。 2,3趾并趾，多指畸形和脊柱后凸，以及眼科，心脏和泌尿生殖系统其他异常。"},"tr":{"name":"MEND sendromu","synonyms":["Nörolojik defektler ile seyreden erkek EBP bozukluğu"]}},"xrefs":[{"source":"OMIM","code":"300960","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C52.10","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0010498","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4085243","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":352487,"name":"Digital anomalies-intellectual disability-short stature syndrome","status":"inactive"}],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"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":68385,"name":"Neurometabolic disease","classifications":[156,181]},{"orpha":79195,"name":"Sterol biosynthesis disorder","classifications":[147,150,156]}],"children":[],"genes":[{"symbol":"EBP","name":"EBP cholestenol delta-isomerase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24459067[PMID]","hgnc":"3133","ensembl":"ENSG00000147155","omim":"300205","loci":["Xp11.23"]}],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":24.0,"area":"Worldwide","status":"Validated","source":"22229330[PMID]_24459067[PMID]_24700572[PMID]_27276700[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_22229330[PMID]_24459067[PMID]_24700572[PMID]_27276700[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-06-12","source":"24459067[PMID]_23307567[PMID]_20949533[PMID]_12503101[PMID]_23307567[PMID]_24459067[PMID]","terms":[{"hpo":"HP:0003465","label":"Elevated 8(9)-cholestenol","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003462","label":"Elevated 8-dehydrocholesterol","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004691","label":"2-3 toe syndactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006958","label":"Abnormal auditory evoked potentials","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012433","label":"Abnormal social behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000422","label":"Abnormality of the nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001650","label":"Aortic valve stenosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009941","label":"Asymmetry of the mouth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010055","label":"Broad hallux","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001305","label":"Dandy-Walker malformation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001290","label":"Generalized hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001161","label":"Hand polydactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002079","label":"Hypoplasia of the corpus callosum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008064","label":"Ichthyosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002808","label":"Kyphosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002509","label":"Limb hypertonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100807","label":"Long fingers","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000472","label":"Long neck","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000568","label":"Microphthalmia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011800","label":"Midface retrusion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010557","label":"Overlapping fingers","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001845","label":"Overlapping toe","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000426","label":"Prominent nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000960","label":"Sacral dimple","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:0005590","label":"Spotty hypopigmentation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000506","label":"Telecanthus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000474","label":"Thickened nuchal skin fold","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000582","label":"Upslanted palpebral fissure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000260","label":"Wide anterior fontanel","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001627","label":"Abnormal heart morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000718","label":"Aggressive behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000752","label":"Hyperactivity","frequency":"Occasional (29-5%)","criteria":null}]}}