X-linked cerebral-cerebellar-coloboma syndrome
Synonyms: X-linked intellectual disability, Kroes type
- Type
- Disease
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
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.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | X-linked cerebral-cerebellar-coloboma syndrome | X-linked intellectual disability, Kroes type |
| fr | Syndrome cérébral-cérébelleux-colobome lié l'X | Déficience intellectuelle liée à l'X type Kroes |
| de | X-chromosomales zerebral-zerebelläres-Kolobom-Syndrom | Intelligenzminderung, X-chromosomale, Typ Kroes |
| es | Síndrome cerebral-cerebeloso-coloboma ligado al cromosoma X | Discapacidad intelectual ligada al cromosoma X tipo Kroes |
| it | Sindrome cerebrale-cerebbellare-coloboma legate all'X | Disabilità intellettiva legata all'X, tipo Kroes |
| nl | X-gebonden cerebraal-cerebellair-coloboom-syndroom | X-gebonden intellectuele achterstand, Kroes-type |
| pt | Síndrome cerebral-cerebeloso-coloboma ligada ao X | Perturbação do desenvolvimento intelectual ligada ao X, tipo Kroes |
| pl | Zespół mózgowo-móżdżkowo-szczelinowy sprzężony z chromosomem X | Niepełnosprawność intelektualna sprzężona z chromosomem X, typ Kroesa |
| cs | X-vázaná mentální retardace, Kroesové typ | X-vázaný cerebro-cerebelární syndrom s kolobomy |
| uk | Х-зчеплений церебрально-мозочковий- колобоми синдром | Х-зчеплена розумова відсталість, тип Кройса |
| zh | X连锁脑-小脑缺损综合征 | Kroes型X连锁智力障碍 |
| tr | X'e bağlı serebral-serebellar-koloboma sendromu | X'e bağlı zihinsel yetersizlik, Kroes tipi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 300864 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0010464 | E | validated | |
| UMLS | C3275487 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:269567Genetic syndrome with a cerebellar malformation as a major feature
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:269523Syndrome with a cerebellar malformation as a major feature
rare developmental anomalies during embryogenesis; rare neurological diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_15887274[PMID] |
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | 15887274[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
31 annotations · validated 2019-08-13| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0002363 | Abnormal brainstem morphology | |
| HP:0002538 | Abnormality of the cerebral cortex | |
| HP:0005949 | Apneic episodes in infancy | |
| HP:0001320 | Cerebellar vermis hypoplasia | |
| HP:0000567 | Chorioretinal coloboma | |
| HP:0002876 | Episodic tachypnea | |
| HP:0011968 | Feeding difficulties | |
| HP:0008947 | Floppy infant | |
| HP:0001263 | Global developmental delay | |
| HP:0000238 | Hydrocephalus | |
| HP:0001249 | Intellectual disability | |
| HP:0000369 | Low-set ears | |
| HP:0040288 | Nasogastric tube feeding | |
| HP:0001250 | Seizure | |
| HP:0002119 | Ventriculomegaly | |
| Occasional (29-5%) | ||
| HP:0002335 | Agenesis of cerebellar vermis | |
| HP:0001284 | Areflexia | |
| HP:0001305 | Dandy-Walker malformation | |
| HP:0002015 | Dysphagia | |
| HP:0002007 | Frontal bossing | |
| HP:0000316 | Hypertelorism | |
| HP:0002245 | Meckel diverticulum | |
| HP:0000347 | Micrognathia | |
| HP:0002033 | Poor suck | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0000278 | Retrognathia | |
| HP:0003196 | Short nose | |
| HP:0005815 | Supernumerary ribs | |
| HP:0009928 | Thick nasal alae | |
| HP:0007738 | Uncontrolled eye movements | |
| HP:0007965 | Undetectable visual evoked potentials | |
Annotation source: 9832051[PMID]_15887274[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/163961
- This record as JSON: /data/d/163961.json