{"orpha":163961,"name":"X-linked cerebral-cerebellar-coloboma syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["X-linked intellectual disability, Kroes type"],"definition":"X-linked cerebral-cerebellar-coloboma syndrome is a rare, genetic syndrome with a cerebellar malformation as major feature characterized by cerebellar vermis hypo- or aplasia, ventriculomegaly, agenesis of corpus callosum and abnormalities of the brainstem and cerebral cortex in association with ocular coloboma. Clinically, patients show hydrocephalus at birth, neonatal hypotonia with abnormal breathing pattern, ocular abnormalities with impaired vision, severe psychomotor delay, and seizures.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-163961/","orphanet_url":"https://www.orpha.net/en/disease/detail/163961","names":{"fr":{"name":"Syndrome cérébral-cérébelleux-colobome lié l'X","synonyms":["Déficience intellectuelle liée à l'X type Kroes"],"definition":"Syndrome génétique rare dont la principale caractéristique est une malformation cérébelleuse caractérisé par une hypoplasie ou aplasie du vermis cérébelleux, une ventriculomégalie, une agénésie du corps calleux et des anomalies du tronc cérébral et du cortex cérébral en association avec un colobome oculaire. Sur le plan clinique, les patients présentent une hydrocéphalie à la naissance, une hypotonie néonatale avec une respiration anormale, des anomalies oculaires et des troubles de la vision, un retard psychomoteur sévère et des crises convulsives."},"de":{"name":"X-chromosomales zerebral-zerebelläres-Kolobom-Syndrom","synonyms":["Intelligenzminderung, X-chromosomale, Typ Kroes"]},"es":{"name":"Síndrome cerebral-cerebeloso-coloboma ligado al cromosoma X","synonyms":["Discapacidad intelectual ligada al cromosoma X tipo Kroes"],"definition":"Es un síndrome genético poco frecuente cuyo rasgo principal es una malformación cerebelosa. Está caracterizado por hipo- o aplasia del vermis cerebeloso, ventriculomegalia, agenesia del cuerpo calloso y anomalías del tronco encefálico y de la corteza cerebral, junto con coloboma ocular. Clínicamente, los afectados presentan hidrocefalia al nacer, hipotonía neonatal con patrón respiratorio anómalo, anomalías oculares con afectación de la visión, retraso psicomotor grave y crisis epilépticas."},"it":{"name":"Sindrome cerebrale-cerebbellare-coloboma legate all'X","synonyms":["Disabilità intellettiva legata all'X, tipo Kroes"],"definition":"La sindrome cerebrale-cerebellare-coloboma legata all'X è una malattia genetica rara, comprendente, come caratteristica principale una malformazione cerebellare consistente in una ipoplasia o aplasia del verme cerebellare, associata a ventricolomegalia, agenesia del corpo calloso, anomalie del tronco encefalico e della corteccia cerebrale e coloboma oculare. Dal punto di vista clinico, i pazienti presentano idrocefalo congenito, ipotonia neonatale con anomalie della respirazione, anomalie oculari con compromissione della vista, grave ritardo psicomotorio e crisi epilettiche."},"nl":{"name":"X-gebonden cerebraal-cerebellair-coloboom-syndroom","synonyms":["X-gebonden intellectuele achterstand, Kroes-type"],"definition":"X-gebonden cerebraal-cerebellair-coloboomsyndroom is een zeldzaam, genetisch syndroom met een cerebellaire malformatie als voornaamste kenmerk, en wordt gekarakteriseerd door hypo- of aplasie van de cerebellaire vermis, ventriculomegalie, agenesie van het corpus callosum en afwijkingen van de hersenstam en hersenschors in associatie met oculair coloboom. Klinisch vertonen patiënten hydrocefalie bij de geboorte, neonatale hypotonie met abnormaal ademhalingspatroon, oculaire afwijkingen met visuele beperking, ernstige psychomotorische achterstand, en insulten."},"pt":{"name":"Síndrome cerebral-cerebeloso-coloboma ligada ao X","synonyms":["Perturbação do desenvolvimento intelectual ligada ao X, tipo Kroes"]},"pl":{"name":"Zespół mózgowo-móżdżkowo-szczelinowy sprzężony z chromosomem X","synonyms":["Niepełnosprawność intelektualna sprzężona z chromosomem X, typ Kroesa"]},"cs":{"name":"X-vázaná mentální retardace, Kroesové typ","synonyms":["X-vázaný cerebro-cerebelární syndrom s kolobomy"]},"uk":{"name":"Х-зчеплений церебрально-мозочковий- колобоми синдром","synonyms":["Х-зчеплена розумова відсталість, тип Кройса"],"definition":"X-linked cerebral-cerebellar-coloboma syndrome is a rare, genetic syndrome with a cerebellar malformation as major feature characterized by cerebellar vermis hypo- or aplasia, ventriculomegaly, agenesis of corpus callosum and abnormalities of the brainstem and cerebral cortex in association with ocular coloboma. Clinically, patients show hydrocephalus at birth, neonatal hypotonia with abnormal breathing pattern, ocular abnormalities with impaired vision, severe psychomotor delay, and seizures."},"zh":{"name":"X连锁脑-小脑缺损综合征","synonyms":["Kroes型X连锁智力障碍"],"definition":"X连锁脑-小脑-结肠瘤综合征是一种罕见的以小脑畸形为主要特点的遗传性综合征，其特征是小脑蚓部发育不良或不发育、脑室扩大、胼胝体发育不全、脑干和大脑皮层异常伴眼缺损。临床上，患者表现为出生时脑积水、新生儿肌张力低下伴呼吸模式异常、眼部异常伴视力受损、重度精神运动迟缓和惊厥。"},"tr":{"name":"X'e bağlı serebral-serebellar-koloboma sendromu","synonyms":["X'e bağlı zihinsel yetersizlik, Kroes tipi"]}},"xrefs":[{"source":"OMIM","code":"300864","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0010464","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3275487","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":269567,"name":"Genetic syndrome with a cerebellar malformation as a major feature","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":269523,"name":"Syndrome with a cerebellar malformation as a major feature","classifications":[147,181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_15887274[PMID]"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"15887274[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-08-13","source":"9832051[PMID]_15887274[PMID]","terms":[{"hpo":"HP:0002363","label":"Abnormal brainstem morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002538","label":"Abnormality of the cerebral cortex","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005949","label":"Apneic episodes in infancy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001320","label":"Cerebellar vermis hypoplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000567","label":"Chorioretinal coloboma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002876","label":"Episodic tachypnea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008947","label":"Floppy infant","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0040288","label":"Nasogastric tube feeding","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002335","label":"Agenesis of cerebellar vermis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001284","label":"Areflexia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001305","label":"Dandy-Walker malformation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002245","label":"Meckel diverticulum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002033","label":"Poor suck","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000278","label":"Retrognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003196","label":"Short nose","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005815","label":"Supernumerary ribs","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009928","label":"Thick nasal alae","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007738","label":"Uncontrolled eye movements","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007965","label":"Undetectable visual evoked potentials","frequency":"Occasional (29-5%)","criteria":null}]}}