Craniotelencephalic dysplasia
historical
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Neonatal
- Status
- historical
Craniotelencephalic dysplasia is an extremely rare, genetic developmental defect during embryogenesis syndrome characterized by craniosynostosis with frontal encephalocele and various additional brain anomalies (severe hydrocephalus, agenesis of the corpus callosum, lissencephaly and polymicrogyria, parenchymal cysts, septo-optic dysplasia) resulting in marked cerebral dysfunction, seizures and very severe psychomotor delay. There have been no further descriptions in the literature since 1983.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Craniotelencephalic dysplasia | |
| fr | Dysplasie cranio-télencéphalique | |
| de | Dysplasie, kraniotelenzephale | |
| es | Displasia craneotelencefálica | |
| it | Displasia craniotelencefalica | |
| nl | Craniotelencefalische dysplasie | |
| pt | Displasia craniotelencefálica | |
| pl | Dysplazja czaszki i kresomózgowia | |
| cs | Kraniotelencefalická dysplázie | |
| uk | Краніотеленцефальна дисплазія | |
| zh | 颅端脑发育不良 | |
| tr | Kraniotelensefalik displazi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 218670 | E | validated | |
| ICD-10 | Q04.3 | NTBT | attributed | validated |
| ICD-11 | LD20.1 | NTBT | index | validated |
| MONDO | 0009042 | E | validated | |
| MeSH | C535597 | E | validated | |
| UMLS | C1857471 | E | validated | |
| GARD | 1605 | 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 (2):
- ORPHA:102010Other syndrome with lissencephaly as a major feature
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases - ORPHA:139393Syndromic craniosynostosis
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone 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 | 4 cases | Worldwide | Case(s) | Validated | 6859106[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_6859106[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
15 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001363 | Craniosynostosis | |
| HP:0002007 | Frontal bossing | |
| HP:0001263 | Global developmental delay | |
| Frequent (79-30%) | ||
| HP:0001274 | Agenesis of corpus callosum | |
| HP:0002139 | Arrhinencephaly | |
| HP:0001321 | Cerebellar hypoplasia | |
| HP:0007330 | Frontoethmoidal encephalocele | |
| HP:0000238 | Hydrocephalus | |
| HP:0001339 | Lissencephaly | |
| HP:0000252 | Microcephaly | |
| HP:0000568 | Microphthalmia | |
| HP:0000648 | Optic atrophy | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0100842 | Septo-optic dysplasia | |
| HP:0000505 | Visual impairment | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1528
- This record as JSON: /data/d/1528.json