{"orpha":435938,"name":"X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome is a rare syndromic intellectual disability characterized by hypotonia, microcephaly, severe developmental delay, seizures, intellectual disability, growth retardation, cardiac septal defects, cryptorchidism, hypospadias, and dysmorphic features - prominent ears, prognathism, thin upper lip, dental crowding.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-435938/","orphanet_url":"https://www.orpha.net/en/disease/detail/435938","names":{"fr":{"name":"Syndrome lié à l'X de microcéphalie-retard de croissance-prognathisme-cryptorchidie","definition":"Déficience intellectuelle syndromique rare caractérisée par une hypotonie, une microcéphalie, un retard de développement sévère, des convulsions, une déficience intellectuelle, un retard de croissance, des malformations du septum cardiaque, une cryptorchidie, un hypospadias et une dysmorphie (grandes oreilles, prognathisme, lèvre supérieure fine, encombrement dentaire)."},"de":{"name":"X-chromosomale Mikrozephalie-Wachstumsverzögerung-Prognathie-Kryptorchismus-Syndrom","definition":"Eine seltene X-chromosomale syndromale Form der Intelligenzminderung, die durch Hypotonie, Mikrozephalie, schwere Entwicklungsverzögerung, Krampfanfälle, intellektuelle Beeinträchtigung, Wachstumsverzögerung, Herzscheidewanddefekte, Kryptorchismus, Hypospadie und dysmorphe Merkmale (abstehende Ohren, Progenie, dünne Oberlippe, Zahnengstand) gekennzeichnet ist."},"es":{"name":"Síndrome de microcefalia-retraso del crecimiento-prognatismo-criptorquidia ligado al cromosoma X","definition":"Es una discapacidad intelectual sindrómica poco frecuente caracterizada por hipotonía, microcefalia, retraso grave del desarrollo, crisis, discapacidad intelectual, retraso del crecimiento, defectos del septo cardiaco, criptorquidia, hipospadias y características dismórficas: orejas prominentes, prognatismo, labio superior delgado y apiñamiento dental."},"it":{"name":"Sindrome da microcefalia, ritardo della crescita, prognatismo e criptorchidismo legata all' X","definition":"La sindrome che associa la microcefalia, il ritardo della crescita, il prognatismo e il criptorchidismo legata all'X è una disabilità intellettiva sindromica rara, caratterizzata da ipotonia, microcefalia, grave ritardo dello sviluppo, crisi epilettiche, disabilità intellettiva, ritardo della crescita, difetti del setto cardiaco, criptorchidismo, ipospadia e dismorfismi (orecchie prominenti, prognatismo, labbro superiore sottile, denti affastellati)."},"nl":{"name":"X-gebonden microcefalie - groeiretardatie - prognathie - cryptorchidie-syndroom","definition":"X-gebonden microcefalie - groeiretardatie - prognathie - cryptorchidie-syndroom is een zeldzame syndromale intellectuele invaliditeit die gekarakteriseerd wordt door hypotonie, microcefalie, ernstige ontwikkelingsachterstand, insulten, intellectuele achterstand, groeiretardatie, hartseptumdefecten, cryptorchidie, hypospadieën, en dysmorfe kenmerken (uitgesproken oren, prognathie, dunne bovenlip, overlappende tanden)."},"pt":{"name":"Síndrome de microcefalia – atraso no crescimento – prognatismo – criptorquidia, ligada ao cromossoma X"},"pl":{"name":"Zespół małogłowia sprzężonego z chromosomem X, opóźnienia wzrostu, prognatyzmu i wnętrostwa"},"cs":{"name":"Syndrom zahrnující X-vázanou mikrocefalii, růstovou retardaci, prognácii a kryptorchismus"},"uk":{"name":"Синдром Х-зчепленої мікроцефалії-затримки росту-прогнатизму-крипторхізму","definition":"X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome is a rare syndromic intellectual disability characterized by hypotonia, microcephaly, severe developmental delay, seizures, intellectual disability, growth retardation, cardiac septal defects, cryptorchidism, hypospadias, and dysmorphic features - prominent ears, prognathism, thin upper lip, dental crowding."},"zh":{"name":"X连锁遗传性小头畸形-发育迟缓-下颌前突-隐睾综合征","definition":"X连锁的小头畸形-发育迟缓-隐睾症是一种罕见的综合征性智力障碍，其特征是肌张力低下，小头畸形，严重的发育延迟，癫痫发作，智力障碍，生长迟缓，心血管间隔缺损，隐睾，尿道下裂和畸形特征-耳朵突出，凸颌，上唇薄，牙齿拥挤。"},"tr":{"name":"X'e bağlı mikrosefali-büyüme geriliği-öne çıkık çene-kriptorşidi sendromu"}},"xrefs":[{"source":"OMIM","code":"300998","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0018569","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5681178","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]}],"children":[],"genes":[{"symbol":"RPL10","name":"ribosomal protein L10","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"25316788[PMID]","hgnc":"10298","ensembl":"ENSG00000147403","omim":"312173","loci":["Xq28"]}],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"25316788[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_25316788[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-11-10","source":"25316788[PMID]","terms":[{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0002020","label":"Gastroesophageal reflux","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0000303","label":"Mandibular prognathia","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0002719","label":"Recurrent infections","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0008850","label":"Severe postnatal growth retardation","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0006466","label":"Ankle flexion contracture","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009796","label":"Branchial cyst","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012385","label":"Camptodactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000678","label":"Dental crowding","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006101","label":"Finger syndactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000047","label":"Hypospadias","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006380","label":"Knee flexion contracture","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001601","label":"Laryngomalacia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000411","label":"Protruding ear","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004415","label":"Pulmonary artery stenosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012033","label":"Sacral lipoma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100716","label":"Self-injurious behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000954","label":"Single transverse palmar crease","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001182","label":"Tapered finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000219","label":"Thin upper lip vermilion","frequency":"Frequent (79-30%)","criteria":null}]}}