{"orpha":163976,"name":"X-linked intellectual disability, Van Esch type","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare, genetic, syndromic intellectual disability characterized by developmental delay, mild to moderate intellectual disability, low birth weight, moderate to severe short stature, microcephaly and variable hypergonadotropic hypogonadism. Mild facial dismorphism include upslanted palpebral fissures and prominent nasal bridge.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-163976/","orphanet_url":"https://www.orpha.net/en/disease/detail/163976","names":{"fr":{"name":"Déficience intellectuelle liée à l'X type Van Esch","definition":"Déficience intellectuelle syndromique rare d'origine génétique, caractérisée par un retard de développement, une déficience intellectuelle légère à modérée, un faible poids à la naissance, un retard structurel modéré à sévère, une microcéphalie et un hypogonadisme hypergonadotropique variable. Une légère dysmorphie faciale est marquée par des fentes palpébrales orientées vers le haut et une racine nasale proéminente."},"de":{"name":"Intelligenzminderung, X-chromosomale, Typ Van Esch","definition":"Eine genetisch bedingte syndromale Form der Intelligenzminderung, die durch Entwicklungsverzögerung, leichte bis mäßige intellektuelle Beeinträchtigung, niedriges Geburtsgewicht, mäßigen bis schweren Kleinwuchs, Mikrozephalie und variablen hypergonadotropen Hypogonadismus gekennzeichnet ist. Zu den leichten Dismorphien im Gesicht gehören aufsteigende Lidachsen und ein hervorstehender Nasenrücken."},"es":{"name":"Discapacidad intelectual ligada al cromosoma X tipo Van Esch","definition":"Es una discapacidad intelectual sindrómica, genética y poco frecuente, caracterizada por retraso del desarrollo, discapacidad intelectual de leve a moderada, bajo peso al nacer, talla baja de moderada a grave, microcefalia e hipogonadismo hipergonadotrópico variable. La dismorfia facial leve incluye fisuras palpebrales inclinadas hacia arriba y puente nasal prominente."},"it":{"name":"Disabilità intellettiva legata all'X tipo Van Esch","definition":"Si tratta di una malattia rara da disabilità intellettiva sindromica, di origine genetica, caratterizzata da ritardo dello sviluppo, disabilità intellettiva lieve-moderata, scarso peso alla nascita, bassa statura moderata-grave, microcefalia e ipogonadismo ipergonadotropo variabile. I pazienti presentano dismorfismi facciali sfumati (rime palpebrali oblique verso l'alto e sella nasale prominente)."},"nl":{"name":"X-gebonden intellectuele achterstand, Van Esch-type","definition":"Een zeldzame, genetische, syndromale intellectuele achterstand, gekarakteriseerd door ontwikkelingsachterstand, milde tot matige intellectuele achterstand, laag geboortegewicht, matige tot ernstige kleine gestalte, microcefalie, en variabel hypergonadotroop hypogonadisme. Milde faciale dysmorfie omvat schuin naar boven hellende ooglidspleten en prominente neusbrug."},"pt":{"name":"Perturbação do desenvolvimento intelectual ligada ao X, tipo Van Esch","definition":"O atraso mental ligado ao X, tipo Van Esch é caracterizado por atraso mental ligeiro a moderado associado a baixo peso à nascença, baixa estatura, microcefalia e hipogonadismo hipergonadotrópico variável."},"pl":{"name":"Niepełnosprawność intelektualna sprzężona z chromosomem X, typ Van Escha"},"cs":{"name":"X-vázaná mentální retardace, Van Eschové typ"},"uk":{"name":"Х-зчеплена розумова відсталість, тип Ван Еша","definition":"A rare, genetic, syndromic intellectual disability characterized by developmental delay, mild to moderate intellectual disability, low birth weight, moderate to severe short stature, microcephaly and variable hypergonadotropic hypogonadism. Mild facial dismorfism include upslanted palpebral fissures and prominent nasal bridge."},"zh":{"name":"Van Esch 型X连锁型智力障碍综合征","definition":"一种罕见的遗传综合征性智力障碍，其特征是发育迟缓、轻至中度智力障碍、低出生体重、中至重度身材矮小、小头畸形和程度不同的高促性腺激素性性腺功能减退。轻度面部畸形包括睑裂上斜和鼻梁突出。"},"tr":{"name":"X'e bağlı zihinsel yetersizlik, Van Esch tipi"}},"xrefs":[{"source":"OMIM","code":"301030","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD90","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0015601","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4305072","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":181441,"name":"Rare disorder with hypergonadotropic hypogonadism","classifications":[156,193,201]}],"children":[],"genes":[{"symbol":"POLA1","name":"DNA polymerase alpha 1, catalytic subunit","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"31006512[PMID]","hgnc":"9173","ensembl":"ENSG00000101868","omim":"312040","loci":["Xp22.11-p21.3"]}],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_16053905[PMID]"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":7.0,"area":"Worldwide","status":"Validated","source":"16053905[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-04-13","source":"16053905[PMID]","terms":[{"hpo":"HP:0008187","label":"Absence of secondary sex characteristics","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007018","label":"Attention deficit hyperactivity disorder","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008734","label":"Decreased testicular size","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002750","label":"Delayed skeletal maturation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000815","label":"Hypergonadotropic hypogonadism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000026","label":"Male hypogonadism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008551","label":"Microtia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012760","label":"Reduced social responsiveness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012646","label":"Retractile testis","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:0005978","label":"Type II diabetes mellitus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0040171","label":"Decreased serum testosterone concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000837","label":"Increased circulating gonadotropin level","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004440","label":"Coronal craniosynostosis","frequency":"Occasional (29-5%)","criteria":null}]}}