Brainstem disconnection syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare syndrome with a brainstem malformation as a major feature characterized by the complete absence, or the complete or functional disconnection of the brainstem segments (midbrain, pons and medulla). Patients present with hypotonia, absence of eye contact, signs of impaired thermoregulation, paralysis of some cranial nerves and variable brain anomalies, mostly global cerebellar hypoplasia. Some patients manifest extracerebral anomalies like facial dysmorphism and heart defects. The prognosis is very poor and in case of survival, the patients suffer from severe disability.
Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Brainstem disconnection syndrome | |
| fr | Syndrome de déconnexion du tronc cérébral | |
| de | Hirnstamm-Diskonnektionssyndrom | |
| es | Síndrome de desconexión del tronco encefálico | |
| it | Sindrome da disconnessione del tronco encefalico | |
| nl | Hersenstam-disconnectiesyndroom | |
| pt | Brainstem disconnection syndrome | |
| pl | Brainstem disconnection syndrome | |
| cs | Brainstem disconnection syndrome |
Cross-references
qualifier = Orphanet mapping relationNo cross-references in this release.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:729519Syndrome with a brainstem malformation as a major feature
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 |
|---|---|---|---|---|---|---|
| Cases/families | 15 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/727820
- This record as JSON: /data/d/727820.json