{"orpha":1436,"name":"X-linked skeletal dysplasia-intellectual disability syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":["Christian syndrome"],"definition":"A rare spondylodysplastic dysplasia characterized by skeletal anomalies, including short stature, ridging of the metopic suture, a fusion of cervical vertebrae, thoracic hemivertebrae, scoliosis, sacral hypoplasia and short middle phalanges. Patients also had a moderate intellectual disability and abducens palsies. Glucose intolerance and imperforate anus were also described. There have been no further descriptions in the literature since 1977.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1436/","orphanet_url":"https://www.orpha.net/en/disease/detail/1436","names":{"fr":{"name":"Syndrome d'anomalies squelettiques-déficience intellectuelle lié a l'X","synonyms":["Syndrome de Christian"],"definition":"Dysplasie spondylo-dysplasique rare caractérisée par des anomalies squelettiques, notamment une petite taille, une crête au niveau de la suture métopique, une fusion des vertèbres cervicales, une hémivertèbre thoracique, une scoliose, une hypoplasie du sacrum et des phalanges moyennes courtes. Les patients présentent également une déficience intellectuelle modérée et une paralysie du nerf abducens. Des cas d'intolérance au glucose et d'imperforation anale ont également été rapportés. Aucun cas du syndrome n'a été décrit dans la littérature depuis 1977."},"de":{"name":"X-chromosomale Skelettdysplasie-Intelligenzminderung-Syndrom","synonyms":["Christian-Syndrom"],"definition":"Eine seltene spondylodysplastische Dysplasie, die durch Skelettanomalien gekennzeichnet ist, einschließlich Kleinwuchs, Riffelung der metopischen Naht, Verschmelzung von Halswirbeln, thorakalen Halbwirbeln, Skoliose, Sakralhypoplasie und kurzen Mittelphalangen. Die Patienten hatten auch eine mäßige Intelligenzminderung und Abduktorenlähmungen. Glukoseintoleranz und Analatresie wurden ebenfalls beschrieben. Seit 1977 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Síndrome de displasia esquelética-discapacidad intelectual ligado al cromosoma X","synonyms":["Síndrome de Christian"],"definition":"Es una displasia espondilodisplásica poco frecuente caracterizada por anomalías esqueléticas, incluyendo talla baja, prominencia de la sutura metópica, fusión de las vértebras cervicales, hemivértebras torácicas, escoliosis, hipoplasia sacra y acortamiento de las falanges medias. Los pacientes presentan una discapacidad intelectual moderada así como parálisis del abducens. También se ha descrito intolerancia a la glucosa y ano imperforado. No ha habido más descripciones en la literatura desde 1977."},"it":{"name":"Sindrome displasia scheletrica-disabilità intellettiva legata all'X","synonyms":["Sindrome di Christian"],"definition":"Si tratta di una sindrome genetica rara, caratterizzata da anomalie scheletriche che comprendono la bassa statura, la cresta metopica, la fusione delle vertebre cervicali, le emivertebre toraciche, la scoliosi, l'ipoplasia dell'osso sacro e l'accorciamento delle falangi medie. Inoltre, i pazienti presentano disabilità intellettiva moderata e paralisi del nervo abducente. Sono stati descritti pazienti con intolleranza al glucosio e ano imperforato."},"nl":{"name":"X-gebonden skeletdysplasie - intellectuele achterstand-syndroom","synonyms":["Syndroom van Christian"],"definition":"Een zeldzame spondylodysplastische dysplasie, gekenmerkt door skeletanomalieën, waaronder kleine gestalte, richel aan sutura metopica (voorhoofdsnaad), fusie van cervicale wervels, thoracale hemivertebrae, scoliose, sacrale hypoplasie, en korte middelste falangen. Patiënten vertonen ook matige intellectuele achterstand en verlamming van nervus abducens (zesde hersenzenuw). Glucose-intolerantie en anusatresie werden ook beschreven. Sinds 1977 zijn er geen bijkomende beschrijvingen in de literatuur."},"pt":{"name":"Síndrome de displasia esquelética-perturbação do desenvolvimento intelectual ligada ao X","synonyms":["Síndrome Christian"],"definition":"Displasia espondilodisplásica rara caracterizada por anomalias esqueléticas, incluindo baixa estatura, sulcos na sutura metópica, fusão de vértebras cervicais, hemivértebras torácicas, escoliose, hipoplasia sagrada e falanges médias curtas. Os doentes apresentavam perturbação do desenvolvimento intelectual moderada e paralisia do abducens. A intolerância à glicose e ânus imperfurado também foram descritos. Não existem descrições adicionais na literatura desde 1977."},"pl":{"name":"Dysplazja szkieletowa - niepełnosprawność intelektualna","synonyms":["Zespół Christiana"],"definition":"Rzadka dysplazja spondylodysplastyczna, która charakteryzuje się wadami szkieletowymi, w tym niskim wzrostem, zgrubieniem szwu czołowego, zrostem kręgów szyjnych, półkręgami piersiowymi, skoliozą, hipoplazją kości krzyżowej i krótkimi paliczkami środkowymi. U pacjentów stwierdzano także umiarkowaną niepełnosprawność intelektualną oraz porażenie mięśnia odwodzącego. Opisywano również nietolerancję glukozy i atrezję odbytu. Od 1977 r. nie ma dalszych opisów w literaturze."},"cs":{"name":"Syndrom zahrnující skeletální dysplázii a mentální retardaci","synonyms":["Christianův syndrom"]},"uk":{"name":"Синдром Х-зчепленої скелетної дисплазії-інтелектуальної недостатності","synonyms":["Синдром Крістіана"],"definition":"A rare genetic syndrome characterized by skeletal anomalies, including short stature, ridging of the metopic suture, a fusion of cervical vertebrae, thoracic hemivertebrae, scoliosis, sacral hypoplasia, short middle phalanges. Patients also had a moderate intellectual disability and abducens palsies. Glucose intolerance and imperforate anus were also described."},"zh":{"name":"X连锁骨骼发育不良-智力障碍综合征","synonyms":["Christian综合征"]},"tr":{"name":"X'e bağlı iskelet displazisi-zihinsel yetersizlik sendromu","synonyms":["Christian sendromu"]}},"xrefs":[{"source":"OMIM","code":"309620","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.5Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0010668","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"10668","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C564101","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1839729","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3520","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"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":93434,"name":"Spondylodysplastic dysplasia","classifications":[147,156,199]},{"orpha":117573,"name":"Syndromic anorectal malformation","classifications":[147,156,182,233]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"837562[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_837562[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0005107","label":"Abnormal sacrum morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002949","label":"Fused cervical vertebrae","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005819","label":"Short middle phalanx of finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008467","label":"Thoracic hemivertebrae","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005978","label":"Type II diabetes mellitus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002023","label":"Anal atresia","frequency":"Occasional (29-5%)","criteria":null}]}}