Isolated rhombencephalosynapsis
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
A rare cerebellar malformation characterized by congenital complete or partial fusion of the cerebellar hemispheres, dentate nuclei, and middle cerebellar peduncles, and complete or partial absence of the vermis. It may occur as an isolated anomaly or with other malformations of the brain.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Isolated rhombencephalosynapsis | |
| fr | Rhombencéphalosynapsis isolée | |
| de | Rhombencephalosynapsis, isolierte | |
| es | Romboencefalosinapsis aislada | |
| it | Rombencefalosinapsi isolata | |
| nl | Geïsoleerde rombencefalosynapsis | |
| pt | Rhombencefalossinapsis | Rombencefalossinapse |
| pl | Rhombencephalosynapsis - aplazja robaka z połączeniem półkul móżdżku | |
| cs | Rhombencefalosynapse | |
| uk | Ромбенцефалосинапсис | |
| zh | 菱脑融合 | |
| tr | Rombensefalosinapsis |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q04.3 | NTBT | attributed | validated |
| ICD-11 | LA06.Y | NTBT | index | validated |
| MONDO | 0018946 | E | validated | |
| UMLS | C1866130 | E | validated | |
| MedDRA | 10090354 | 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 (1):
- ORPHA:729527Isolated cerebellar malformation
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 |
|---|---|---|---|---|---|---|
| Cases/families | 100 cases | Worldwide | Case(s) | Validated | 25816977[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_25816977[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
30 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0100321 | Abnormality of the dentate nucleus | |
| HP:0002335 | Agenesis of cerebellar vermis | |
| HP:0000463 | Anteverted nares | |
| HP:0006899 | Fusion of the cerebellar hemispheres | |
| HP:0000238 | Hydrocephalus | |
| HP:0000316 | Hypertelorism | |
| HP:0000256 | Macrocephaly | |
| HP:0000308 | Microretrognathia | |
| HP:0000160 | Narrow mouth | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0003196 | Short nose | |
| HP:0002119 | Ventriculomegaly | |
| Frequent (79-30%) | ||
| HP:0001251 | Ataxia | |
| HP:0010664 | Fusion of the left and right thalami | |
| HP:0001249 | Intellectual disability | |
| HP:0100842 | Septo-optic dysplasia | |
| Occasional (29-5%) | ||
| HP:0012210 | Abnormal renal morphology | |
| HP:0001626 | Abnormality of the cardiovascular system | |
| HP:0000478 | Abnormality of the eye | |
| HP:0000271 | Abnormality of the face | |
| HP:0000130 | Abnormality of the uterus | |
| HP:0000504 | Abnormality of vision | |
| HP:0002251 | Aganglionic megacolon | |
| HP:0002023 | Anal atresia | |
| HP:0009943 | Complete duplication of thumb phalanx | |
| HP:0002032 | Esophageal atresia | |
| HP:0006101 | Finger syndactyly | |
| HP:0010442 | Polydactyly | |
| HP:0009803 | Short phalanx of finger | |
| HP:0002575 | Tracheoesophageal fistula | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 819057916[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/59315
- This record as JSON: /data/d/59315.json