{"orpha":3041,"name":"Intellectual disability-balding-patella luxation-acromicria syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Scholte-Begeer-van Essen syndrome"],"definition":"Intellectual disability-balding-patella luxation-acromicria syndrome is characterised by severe intellectual deficit, patella luxations, acromicria, hypogonadism, facial dysmorphism (including midface hypoplasia and premature frontotemporal balding). It has been described in three unrelated males.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3041/","orphanet_url":"https://www.orpha.net/en/disease/detail/3041","names":{"fr":{"name":"Syndrome de déficience intellectuelle-calvitie-luxation de la rotule-acromicrie","synonyms":["Syndrome de Scholte-Begeer-van Essen"],"definition":"Le syndrome de déficience intellectuelle-calvitie-luxation de la rotule-acromicrie est caractérisé par un déficit intellectuel sévère, une luxation des rotules, une acromicrie, un hypogonadisme et une dysmorphie (incluant hypoplasie médio-faciale et calvitie fronto-temporale précoce). Il a été décrit chez trois hommes non apparentés."},"de":{"name":"Intelligenzminderung-Glatzenbildung-Patellaluxation-Akromikrie-Syndrom","synonyms":["Scholte-Begeer-van Essen-Syndrom"],"definition":"Dieses Syndrom ist gekennzeichnet durch schwere Intelligenzminderung, Patella-Luxationen, Akromikrie, Hypogonadismus, faziale Dysmorphien (u.a. Mittelgesichtshypoplasie) und vorzeitige Stirn- und Schläfenglatze."},"es":{"name":"Síndrome de discapacidad intelectual-calvicie-luxación de rótula-acromicria","synonyms":["Síndrome de Scholte-Begeer-Van Essen"],"definition":"Es un síndrome caracterizado por déficit intelectual grave, luxaciones de rótula, acromicria, hipogonadismo, dismorfia facial (incluyendo hipoplasia medio facial y calvicie frontotemporal prematura). El síndrome se ha descrito en tres varones sin ningún tipo de parentesco."},"it":{"name":"Sindrome disabilità intellettiva-calvizie-lussazione della rotula-acromicria","synonyms":["Sindrome di Scholte-Begeer-Van Essen"]},"nl":{"name":"Intellectuele achterstand - kaalheid - luxatie van patella - acromicrie-syndroom","synonyms":["Syndroom van Scholte-Begeer-van Essen"],"definition":"Een syndroom, gekenmerkt door ernstige intellectuele achterstand, luxatie van patella, acromicrie, hypogonadisme, en faciale dysmorfie (met onder meer hypoplasie van middengezicht en premature frontotemporale kaalheid). Intellectuele achterstand - kaalheid - luxatie van patella -acromicrie-syndroom werd beschreven bij drie niet-verwante mannen."},"pt":{"name":"Síndrome de perturbação do desenvolvimento intelectual-alopecia do couro cabeludo-luxação da rótula-acromicria","synonyms":["Síndrome Scholte-Begeer-van Essen"]},"pl":{"name":"Niepełnosprawność intelektualna - łysienie - zwichnięcie rzepki - akromikria","synonyms":["Zespół Scholte, Begeera i van Essena"]},"cs":{"name":"Syndrom zahrnující mentální retardaci, ztrátu vlasů, luxaci čéšky a akromikrii","synonyms":["Scholteův-Begeerův-van Essenův syndrom","Scholte-Begeer-van Essenův syndrom"]},"uk":{"name":"Синдром інтелектуальної недостатності-облисіння-вивиху надколінка-акромікрії","synonyms":["Синдром Шолте-Бегера-ван-Ессена"],"definition":"Intellectual disability-balding-patella luxation-acromicria syndrome is characterised by severe intellectual deficit, patella luxations, acromicria, hypogonadism, facial dysmorphism (including midface hypoplasia and premature frontotemporal balding). It has been described in three unrelated males."},"zh":{"name":"智力障碍-秃顶-髌骨脱臼-肢端过小症综合征","synonyms":["Scholte-Begeer-van Essen综合征"]},"tr":{"name":"Zihinsel yetersizlik-saç dökülmesi-patella çıkığı-akromikri sendromu","synonyms":["Scholte-Begeer-van Essen sendromu"]}},"xrefs":[{"source":"OMIM","code":"300977","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.8Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"956327357"},{"source":"MONDO","code":"0010505","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536638","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1866985","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"257","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":93436,"name":"Acromelic dysplasia","classifications":[147,156,199]},{"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":[],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"2002488[PMID]_8487281[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_2002488[PMID]_8487281[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-03-13","source":"20624501[PMID]_8487281[PMID]_2002488[PMID]","terms":[{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003086","label":"Acromesomelia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000455","label":"Broad nasal tip","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000490","label":"Deeply set eye","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002234","label":"Early balding","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000232","label":"Everted lower lip vermilion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002292","label":"Frontal balding","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000348","label":"High forehead","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010864","label":"Intellectual disability, severe","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000233","label":"Thin vermilion border","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000582","label":"Upslanted palpebral fissure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000635","label":"Blue irides","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000414","label":"Bulbous nose","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003199","label":"Decreased muscle mass","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008734","label":"Decreased testicular size","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003241","label":"External genital hypoplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008947","label":"Floppy infant","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000135","label":"Hypogonadism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002751","label":"Kyphoscoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000054","label":"Micropenis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003065","label":"Patellar hypoplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010499","label":"Patellar subluxation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003758","label":"Reduced subcutaneous adipose tissue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000219","label":"Thin upper lip vermilion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002317","label":"Unsteady gait","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004691","label":"2-3 toe syndactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004692","label":"4-5 toe syndactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009738","label":"Abnormality of the antihelix","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000957","label":"Cafe-au-lait spot","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000268","label":"Dolichocephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001310","label":"Dysmetria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005469","label":"Flat occiput","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030044","label":"Flexion contracture of digit","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002378","label":"Hand tremor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001187","label":"Hyperextensibility of the finger joints","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002938","label":"Lumbar hyperlordosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008414","label":"Lumbar kyphosis in infancy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001840","label":"Metatarsus adductus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011800","label":"Midface retrusion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001761","label":"Pes cavus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011220","label":"Prominent forehead","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000411","label":"Protruding ear","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002205","label":"Recurrent respiratory infections","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000742","label":"Self-mutilation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000322","label":"Short philtrum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001831","label":"Short toe","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002313","label":"Spastic paraparesis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002942","label":"Thoracic kyphosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002944","label":"Thoracolumbar scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001956","label":"Truncal obesity","frequency":"Occasional (29-5%)","criteria":null}]}}