{"orpha":85293,"name":"X-linked intellectual disability, Cabezas type","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Cabezas syndrome"],"definition":"An X-linked syndromic intellectual disability characterized by developmental delay, intellectual disability (ID) with severe speech impairment, and short stature. Variable additional clinical features have been associated, including behavioral disturbances, gait abnormalities, tremor, seizures, hypogonadism, truncal obesity, unspecific facial dysmorphism, and small hands and feet.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-85293/","orphanet_url":"https://www.orpha.net/en/disease/detail/85293","names":{"fr":{"name":"Déficience intellectuelle liée à l'X type Cabezas","synonyms":["Syndrome de Cabezas"],"definition":"Déficience intellectuelle syndromique liée à l'X caractérisée par un retard de développement, une déficience intellectuelle avec trouble sévère de la parole, et petite taille. D'autres signes cliniques variables ont été associés à la maladie, à savoir des troubles du comportement, des anomalies de la marche, des tremblements, des crises épileptiques, un hypogonadisme, une obésité abdominale, une dysmorphie faciale non spécifique et de petites mains et de petits pieds."},"de":{"name":"Intelligenzminderung, X-chromosomale, Typ Cabezas","synonyms":["Cabezas-Syndrom"],"definition":"Eine X-chromosomale syndromale Form der Intelligenzminderung, die durch Entwicklungsverzögerung, intellektuelle Beeinträchtigung mit erheblicher Sprachbehinderung und Kleinwuchs gekennzeichnet ist. Es wurden verschiedene zusätzliche klinische Merkmale festgestellt, darunter Verhaltensstörungen, Ganganomalien, Tremor, Krampfanfälle, Hypogonadismus, Adipositas truncalis, unspezifische Gesichtsdysmorphien sowie kleine Hände und Füße."},"es":{"name":"Discapacidad intelectual ligada al cromosoma X tipo Cabezas","synonyms":["Síndrome de Cabezas"],"definition":"Es una discapacidad intelectual sindrómica ligada al cromosoma X caracterizada por retraso del desarrollo, discapacidad intelectual (DI) con graves trastornos del habla y talla baja. Otras características clínicas variables asociadas son: trastornos de conducta, anomalías de la marcha, temblores, crisis, hipogonadismo, obesidad troncal, dismorfia facial inespecífica y manos y pies pequeños."},"it":{"name":"Disabilità intellettiva legata all'X tipo Cabezas","synonyms":["Sindrome di Cabezas"],"definition":"Si tratta di una disabilità intellettiva sindromica legata all'X, caratterizzata da ritardo dello sviluppo, disabilità intellettiva con grave deficit del linguaggio e bassa statura. Può associarsi ad altri segni clinici variabili, che comprendono i disturbi del comportamento, le anomalie dell'andatura, il tremore, le crisi epilettiche, l'obesità del tronco, i dismorfismi facciali aspecifici, e le mani e i piedi piccoli."},"nl":{"name":"X-gebonden intellectuele achterstand, Cabezas-type","synonyms":["Syndroom van Cabezas"],"definition":"Een X-gebonden syndromale intellectuele achterstand, gekarakteriseerd door ontwikkelingsachterstand, intellectuele achterstand met ernstige spraakstoornis, en kleine gestalte. Er werden variabele bijkomende klinische kenmerken geassocieerd, waaronder gedragsstoornissen, ganganomalieën, tremor, insulten, hypogonadisme, centrale obesitas, aspecifieke faciale dysmorfie, en kleine handen en voeten."},"pt":{"name":"Perturbação do desenvolvimento intelectual ligada ao X, tipo Cabezas","synonyms":["Síndrome Cabezas"]},"pl":{"name":"Zespół Cabezasa","synonyms":["Niepełnosprawność intelektualna sprzężona z chromosomem X, typ Cabezasa"]},"cs":{"name":"X-vázaná mentální retardace, Cabezasův typ","synonyms":["Cabezasův syndrom"]},"uk":{"name":"Х-зчеплена розумова відсталість, тип Кабезас","synonyms":["Синдром Кабесаса"],"definition":"An X-linked syndromic intellectual disability characterized by developmental delay, intellectual disability (ID) with severe speech impairment, and short stature. Variable additional clinical features have been associated, including behavioral disturbances, gait abnormalities, tremor, seizures, hypogonadism, truncal obesity, unspecific facial dysmorphism, and small hands and feet."},"zh":{"name":"X连锁智力障碍，Cabezas型","synonyms":["Cabezas综合征"]},"tr":{"name":"X'e bağlı zihinsel yetersizlik, Cabezas tipi","synonyms":["Cabezas sendromu"]}},"xrefs":[{"source":"OMIM","code":"300354","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":"0010306","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1845861","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"13244","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":85289,"name":"X-linked intellectual disability, Vitale type","status":"inactive"}],"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":"CUL4B","name":"cullin 4B","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"17236139[PMID]_2000245[PMID]","hgnc":"2555","ensembl":"ENSG00000158290","omim":"300304","loci":["Xq24"]}],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":24.0,"area":"Worldwide","status":"Validated","source":"25385192[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_25385192[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":"10978355[PMID]_20002452[PMID]_25251057[PMID]_8826447[PMID]","terms":[{"hpo":"HP:0010720","label":"Abnormal hair pattern","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000363","label":"Abnormality of earlobe","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002167","label":"Abnormality of speech or vocalization","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001344","label":"Absent speech","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0200021","label":"Down-sloping shoulders","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000752","label":"Hyperactivity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008736","label":"Hypoplasia of penis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000023","label":"Inguinal hernia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002342","label":"Intellectual disability, moderate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010864","label":"Intellectual disability, severe","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010807","label":"Open bite","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000448","label":"Prominent nose","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004279","label":"Short palm","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000322","label":"Short philtrum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0200055","label":"Small hand","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000664","label":"Synophrys","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000154","label":"Wide mouth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000718","label":"Aggressive behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000581","label":"Blepharophimosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002136","label":"Broad-based gait","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004326","label":"Cachexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008734","label":"Decreased testicular size","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001513","label":"Obesity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001761","label":"Pes cavus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001852","label":"Sandal gap","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001773","label":"Short foot","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000179","label":"Thick lower lip vermilion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001337","label":"Tremor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000956","label":"Acanthosis nigricans","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004422","label":"Biparietal narrowing","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100490","label":"Camptodactyly of finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002967","label":"Cubitus valgus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002353","label":"EEG abnormality","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000975","label":"Hyperhidrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000135","label":"Hypogonadism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002721","label":"Immunodeficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002808","label":"Kyphosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001770","label":"Toe syndactyly","frequency":"Occasional (29-5%)","criteria":null}]}}