Pontine tegmental cap dysplasia
Synonyms: PTCD
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare syndrome with a brainstem malformation as a major feature characterized by ventral pontine hypoplasia, dorsal cap projection into the forth ventricle and cranial nerve dysfunction. Clinical manifestations of multiple cranial nerves deficits, pyramidal and cerebellar signs include neonatal hypotonia, ataxia, sensorineural deafness, reduced vision, language and speech disorders, feeding and swallowing difficulties, facial paralysis and intellectual disability. Various cardiac, gastrointestinal, genitourinary and skeletal defects have been sometimes reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Pontine tegmental cap dysplasia | PTCD |
| fr | Dysplasie du tegmentum pontique | = en |
| de | Pontine Tegmentale Capdysplasie | = en |
| es | Displasia pontino-tegmental cap | Displasia del tegmento pontino en gorra · PTCD |
| it | Displasia del tegmento pontino | = en |
| nl | Pontiene tegmentale kap-dysplasie | = en |
| pt | Displasia do tegumento da ponte | = en |
| pl | Dysplazja nakrywki mostu | = en |
| cs | Pontinní dysplázie s dorzální čepičkou | = en |
| uk | Дисплазія мостоподібного відростка | = en |
| zh | 脑桥被盖帽发育不良 | = en |
| tr | Pontine tegmental kapak displazisi | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 614688 | E | validated | |
| ICD-10 | Q04.8 | NTBT | attributed | validated |
| MONDO | 0013858 | E | validated | |
| UMLS | C3541340 | E | validated | |
| GARD | 10919 | 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:729519Syndrome with a brainstem 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 | 22 cases | Worldwide | Case(s) | Validated | 21651769[PMID]_21705787[PMID] | |
| 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/269229
- This record as JSON: /data/d/269229.json