Medullary tegmental cap dysplasia
Synonyms: MTCD
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare syndrome with a brainstem malformation as a major feature characterized by an abnormal mass, also called cap, of different shape and size, protruding from the posterior medullary surface. Patients may present a variable phenotype ranging from normal neurodevelopment to profound developmental delay, as well as variable neurologic manifestations such as hypotonia, strabismus, nystagmus, absent eye contact and hyperkinetic movements. Sometimes, extracerebral anomalies are observed such as cutaneous lesions, respiratory problems, hematologic and hepatic disorders.
Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Medullary tegmental cap dysplasia | MTCD |
| fr | Dysplasie tegmentale de la moelle allongée | Dysplasie du tegmetum de la moelle allongée · Dysplasie tegmentale médullaire |
| de | Medulläre tegmentale Capdysplasie | = en |
| es | Displasia del casquete tegmental bulbar | = en |
| it | Displasia del tegmento midollare | = en |
| nl | Medullaire tegmentale kap-dysplasie | = en |
| pt | Medullary tegmental cap dysplasia | |
| pl | Medullary tegmental cap dysplasia | = en |
| cs | Medullary tegmental cap dysplasia | = en |
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 | 27 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/727881
- This record as JSON: /data/d/727881.json