{"orpha":163979,"name":"X-linked intellectual disability-craniofacioskeletal syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"X-linked intellectual disability-craniofacioskeletal syndrome is a rare, hereditary, syndromic intellectual disability characterized by craniofacial and skeletal abnormalities in association with mild intellectual disability in females and early postnatal lethality in males. In addition to mild cognitive impairment, females present with microcephaly, short stature, skeletal features and extra temporal lobe gyrus. In males, intrauterine growth impairment, cardiac and urogenital anomalies have been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-163979/","orphanet_url":"https://www.orpha.net/en/disease/detail/163979","names":{"fr":{"name":"Syndrome de déficience intellectuelle liée à l'X-syndrome cranio-facio-squelettique","definition":"Déficience intellectuelle syndromique héréditaire rare caractérisée par des anomalies craniofaciales et squelettiques associées à une déficience intellectuelle légère chez les femmes et à une létalité postnatale précoce chez les hommes. Outre des troubles cognitifs légers, les femmes présentent une microcéphalie, une petite taille, des anomalies squelettiques et des circonvolutions surnuméraires du lobe temporal. Chez les hommes, des cas d'anomalies de la croissance intra-utérine, d'anomalies cardiaques et urogénitales ont été rapportés."},"de":{"name":"Kranio-fazio-skeletales Syndrom, X-chromosomales"},"es":{"name":"Síndrome de discapacidad intelectual-anomalías craneofacioesqueléticas ligado al X","definition":"El síndrome de discapacidad intelectual - anomalías craneofacioesqueléticas ligado al cromosoma X, es un síndrome hereditario poco frecuente, caracterizado por anomalías craneofaciales y esqueléticas, asociado a discapacidad intelectual leve en mujeres, y fallecimiento postnatal temprano en varones. Además del leve deterioro cognitivo, las mujeres presentan microcefalia, talla baja, rasgos esqueléticos y circumvoluciones supernumerarias en lóbulo temporal. En varones, también se han descrito alteraciones en el crecimiento intrauterino, anomalías cardíacas y urogenitales."},"it":{"name":"Sindrome cranio-facio-scheletrica con disabilità intellettiva legata all'X","definition":"La sindrome cranio-facio-scheletrica con disabilità intellettiva legata all'X è una disabilità intellettiva sindromica ereditaria rara, caratterizzata da anomalie craniofacciali e scheletriche, associate a lieve disabilità intellettiva nelle femmine e a mortalità postnatale precoce nei maschi. Oltre al lieve deficit cognitivo, le femmine presentano microcefalia, bassa statura, anomalie scheletriche e circonvoluzioni soprannumerarie nel lobo temporale. I maschi presentano ritardo della crescita prenatale ed anomalie cardiache e uro-genitali."},"nl":{"name":"X-gebonden intellectuele achterstand - craniofacioskeletaal syndroom","definition":"Intellectuele achterstand, X-gebonden - craniofacioskeletaal syndroom is een zeldzame, erfelijke, syndromale intellectuele invaliditeit die gekarakteriseerd wordt door craniofaciale en skeletale afwijkingen, geassocieerd met milde intellectuele achterstand bij vrouwen en vroege postnatale letaliteit bij mannen. Naast milde cognitieve beperking vertonen vrouwen microcefalie, kleine gestalte, skeletkenmerken en extratemporale gyrus. Bij mannen werden intra-uteriene groeirestrictie alsook cardiale en urogenitale anomalieën gerapporteerd."},"pt":{"name":"Síndrome craniofacioesquelético-perturbação do desenvolvimento intelectual ligada ao X"},"pl":{"name":"Niepełnosprawność intelektualna sprzężona z chromosomem X - zespół czaszkowo-twarzowo-szkieletowy","definition":"*Niepełnosprawność intelektualna sprzężona z chromosomem X - zespół czaszkowo-twarzowo-szkieletowy jest rzadkim, dziedzicznym zespołem z niepełnosprawnością intelektualną, który charakteryzuje się nieprawidłowościami w obrębie twarzoczaszki i szkieletu w połączeniu z łagodną niepełnosprawnością intelektualną u dziewczynek i wczesną śmiertelnością postnatalną u chłopców. Oprócz łagodnych zaburzeń poznawczych u dziewczynek występuje małogłowie, niski wzrost, objawy szkieletowe i dodatkowy zakręt kory mózgowej płata skroniowego. U płci męskiej opisywano występowanie wewnątrzmacicznego zaburzenia wzrastania oraz wady serca i układu moczowo-płciowego."},"cs":{"name":"X-vázaná mentální retardace s kraniofacioskeletálními symptomy"},"uk":{"name":"Х-зчеплена розумова відсталість-краніофаціально-скелетний синдром","definition":"X-linked intellectual disability-craniofacioskeletal syndrome is a rare, hereditary, syndromic intellectual disability characterized by craniofacial and skeletal abnormalities in association with mild intellectual disability in females and early postnatal lethality in males. In addition to mild cognitive impairment, females present with microcephaly, short stature, skeletal features and extra temporal lobe gyrus. In males, intrauterine growth impairment, cardiac and urogenital anomalies have been reported."},"zh":{"name":"X连锁智力障碍-颅颌面骨综合征","definition":"X连锁智力障碍-颅面骨骼综合征是一种罕见的遗传综合征性智力障碍，其特征是颅面和骨骼异常，女性中伴轻度智力障碍，男性中与早期出生后死亡相关关。除轻度认知障碍外，女性还表现为小头畸形，身材矮小，骨骼异常和额外的颞叶回。在男性中，有子宫内生长障碍，心脏和泌尿生殖系统异常的报道。"},"tr":{"name":"X'e bağlı zihinsel yetersizlik-kraniyofasiyoskeletal sendrom"}},"xrefs":[{"source":"OMIM","code":"300712","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":"0010412","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4750743","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":[],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_17853486[PMID]"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":9.0,"area":"Worldwide","status":"Validated","source":"17853486[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-08-13","source":"17853486[PMID]","terms":[{"hpo":"HP:0001488","label":"Bilateral ptosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011833","label":"Overhanging nasal tip","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001763","label":"Pes planus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009237","label":"Short 5th finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000331","label":"Short chin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000322","label":"Short philtrum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000219","label":"Thin upper lip vermilion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001863","label":"Toe clinodactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000430","label":"Underdeveloped nasal alae","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004691","label":"2-3 toe syndactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011467","label":"Absent gallbladder","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001903","label":"Anemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008386","label":"Aplasia/Hypoplasia of the nails","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001631","label":"Atrial septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000337","label":"Broad forehead","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002682","label":"Broad skull","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001782","label":"Bulbous tips of toes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005306","label":"Capillary hemangioma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001321","label":"Cerebellar hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000453","label":"Choanal atresia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030148","label":"Heart murmur","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000126","label":"Hydronephrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002904","label":"Hyperbilirubinemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001187","label":"Hyperextensibility of the finger joints","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002901","label":"Hypocalcemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000047","label":"Hypospadias","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011611","label":"Interrupted aortic arch","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002170","label":"Intracranial hemorrhage","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010511","label":"Long toe","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000054","label":"Micropenis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008551","label":"Microtia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001643","label":"Patent ductus arteriosus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000520","label":"Proptosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002093","label":"Respiratory insufficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001838","label":"Rocker bottom foot","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001873","label":"Thrombocytopenia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002777","label":"Tracheal stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000582","label":"Upslanted palpebral fissure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006610","label":"Wide intermamillary distance","frequency":"Occasional (29-5%)","criteria":null}]}}