{"orpha":275543,"name":"L1 syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["CRASH syndrome","Corpus callosum hypoplasia-retardation-adducted thumbs-spasticity-hydrocephalus syndrome","L1CAM syndrome"],"definition":"A rare, congenital X-linked developmental disorder characterized by hydrocephalus of varying degrees of severity, intellectual deficit, spasticity of the legs, and adducted thumbs. The syndrome represents a spectrum of disorders including: X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS), MASA syndrome, X-linked complicated hereditary spastic paraplegia type 1, and X-linked complicated corpus callosum agenesis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-275543/","orphanet_url":"https://www.orpha.net/en/disease/detail/275543","names":{"fr":{"name":"Syndrome L1","synonyms":["Syndrome CRASH","Syndrome L1CAM"],"definition":"Anomalie rare du développement embryonnaire liée à l'X, caractérisée par une hydrocéphalie de gravité variable, une déficience intellectuelle, une spasticité des jambes et des pouces en adduction. Le syndrome représente un spectre de maladies incluant : l'hydrocéphalie avec sténose de l'aqueduc de Sylvius liée à l'X (HSAS), le syndrome MASA, la paraplégie spastique héréditaire complexe de type 1 liée à l'X et l'agénésie complexe du corps calleux liée à l'X."},"de":{"name":"L1-Syndrom","synonyms":["CRASH-Syndrom","Corpus callosum-Agenesie-Intelligenzminderung-Adduzierte Daumen-Spastische Paraplegie-Hydrozephalus-Syndrom","L1CAM-Syndrom"],"definition":"Eine angeborene X-chromosomale Entwicklungsstörung, die gekennzeichnet ist durch einen Hydrozephalus unterschiedlichen Schweregrades, Intelligenzminderung, Spasmen der Beine und adduzierte Daumen. Das L1-Syndrom stellt ein Spektrum von Störungen dar, zu denen die folgenden zählen: X-chromosomaler Hydrozephalus mit Stenose der Sylvius-Leitung (HSAS), MASA-Syndrom, X-chromosomale komplizierte hereditäre spastische Paraplegie Typ 1 und X-chromosomale komplizierte Corpus-callosum-Agenesie."},"es":{"name":"Síndrome L1","synonyms":["Síndrome CRASH","Síndrome L1CAM","Síndrome de hipoplasia del cuerpo calloso-retraso-pulgares en aducción-espasticidad-hidrocefalia"],"definition":"Es un trastorno congénito poco frecuente del desarrollo ligado al cromosoma X caracterizado por hidrocefalia con distintos grados de gravedad, déficit intelectual, espasticidad de las piernas, y pulgares en aducción. El síndrome representa un espectro de trastornos como la hidrocefalia ligada al cromosoma X con estenosis del acueducto de Silvio (HSAS), síndrome MASA, paraparesia espástica compleja tipo 1 ligada al cromosoma X, y agenesia del cuerpo calloso compleja ligada al cromosoma X."},"it":{"name":"Sindrome L1","synonyms":["Sindrome CRASH","Sindrome L1CAM","Sindrome ipoplasia del corpo calloso-ritardo-pollici addotti-spasticità-idrocefalo"],"definition":"La sindrome L1 è una malattia congenita rara dello sviluppo legata all'X, caratterizzata da idrocefalo di gravità variabile, deficit cognitivo, spasticità delle gambe e pollici addotti. La malattia rientra in uno spettro che comprende l'idrocefalo legato all'X con stenosi dell'acquedotto di Silvio (HSAS), la sindrome MASA, la paraplegia spastica ereditaria complicata legata all'X tipo 1 e l'agenesia del corpo calloso complicata legata all'X."},"nl":{"name":"L1-syndroom","synonyms":["CRASH-syndroom","Hypoplasie van het corpus callosum - retardatie - geadduceerde duimen - spasticiteit - hydrocefalus-syndroom","L1CAM-syndroom"],"definition":"Een zeldzame, congenitale X-gebonden ontwikkelingsstoornis, gekarakteriseerd door hydrocefalie met variabele gradaties van ernst, intellectuele achterstand, spasticiteit van de benen, en geadduceerde duimen. Het syndroom vertegenwoordigt een spectrum van aandoeningen, waaronder X-gebonden hydrocefalie met stenose van aqueduct van Sylvius (HSAS), MASA-syndroom, X-gebonden gecompliceerde hereditaire spastische paraplegie type 1, en X-gebonden gecompliceerde agenesie van corpus callosum."},"pt":{"name":"Síndrome de L1"},"pl":{"name":"Zespół L1","synonyms":["Zespół CRASH","Zespół hipoplazja ciała modzelowatego-opóźnienie-przywiedzione kciuki-spastyczność wodogłowie","Zespół L1CAM"]},"cs":{"name":"L1 syndrom","synonyms":["CRASH syndrom","Syndrom zahrnující hypoplázii corpus callosum, mentální retardaci, addukované palce na rukou, spasticitu a hydrocefalus","L1CAM syndrom"]},"uk":{"name":"Синдром L1","synonyms":["Гіпоплазія мозолистого тіла-відставання в рості-зростання великих пальців-спастичність-гідроцефальний синдром","CRASH-синдром","Синдром L1CAM"],"definition":"A rare, congenital X-linked developmental disorder characterized by hydrocephalus of varying degrees of severity, intellectual deficit, spasticity of the legs, and adducted thumbs. The syndrome represents a spectrum of disorders including: X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS), MASA syndrome, X-linked complicated hereditary spastic paraplegia type 1, and X-linked complicated corpus callosum agenesis."},"zh":{"name":"L1综合征","synonyms":["胼胝体发育不全-发育迟缓-拇指内收-痉挛-脑积水综合征"],"definition":"L1综合征是一种轻度至重度的先天性X连锁发育障碍，其特征为不同程度的脑积水、智力缺陷、腿部痉挛和拇指内收。该综合征代表了一系列疾病，包括:伴Sylvius导水管狭窄的X连锁脑积水（(HSAS)）、MASA综合征、X连锁复杂遗传性痉挛性截瘫1型和X连锁复杂胼胝体发育不全(见该类词条)。"},"tr":{"name":"L1 sendromu","synonyms":["CRASH sendromu","L1CAM sendromu","Korpus kallozum hipoplazisi-retardasyon-addukte başparmaklar-spastisite-hidrosefali sendromu"]}},"xrefs":[{"source":"OMIM","code":"303350","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"304100","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"307000","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q04.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD90.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1457804873"},{"source":"MONDO","code":"0017140","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5779710","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12524","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":269573,"name":"Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature","classifications":[156]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]},{"orpha":199639,"name":"Syndrome with corpus callosum agenesis/dysgenesis as a major feature","classifications":[147,181]}],"children":[{"orpha":2182,"name":"Hydrocephalus with stenosis of the aqueduct of Sylvius","type":"Clinical subtype"},{"orpha":2466,"name":"MASA syndrome","type":"Clinical subtype"},{"orpha":1497,"name":"X-linked complicated corpus callosum dysgenesis","type":"Clinical subtype"},{"orpha":306617,"name":"X-linked complicated spastic paraplegia type 1","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"L1CAM","name":"L1 cell adhesion molecule","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301657[PMID]","hgnc":"6470","ensembl":"ENSG00000198910","omim":"308840","loci":["Xq28"],"via":{"orpha":1497,"name":"X-linked complicated corpus callosum dysgenesis"}},{"symbol":"L1CAM","name":"L1 cell adhesion molecule","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301657[PMID]","hgnc":"6470","ensembl":"ENSG00000198910","omim":"308840","loci":["Xq28"],"via":{"orpha":2182,"name":"Hydrocephalus with stenosis of the aqueduct of Sylvius"}},{"symbol":"L1CAM","name":"L1 cell adhesion molecule","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301657[PMID]","hgnc":"6470","ensembl":"ENSG00000198910","omim":"308840","loci":["Xq28"],"via":{"orpha":2466,"name":"MASA syndrome"}},{"symbol":"L1CAM","name":"L1 cell adhesion molecule","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301657[PMID]","hgnc":"6470","ensembl":"ENSG00000198910","omim":"308840","loci":["Xq28"],"via":{"orpha":306617,"name":"X-linked complicated spastic paraplegia type 1"}}],"inheritance":["X-linked recessive"],"onset":["Antenatal","Infancy","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:0002410","label":"Aqueductal stenosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000716","label":"Depression","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002315","label":"Headache","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004374","label":"Hemiplegia/hemiparesis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002463","label":"Language impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002017","label":"Nausea and vomiting","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001181","label":"Adducted thumb","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002251","label":"Aganglionic megacolon","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003202","label":"Skeletal muscle atrophy","frequency":"Occasional (29-5%)","criteria":null}]}}