Infantile choroidocerebral calcification syndrome
historical
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- historical
A rare syndromic intellectual disability characterized by severe intellectual disability and calcification of the choroid plexus, associated with elevated cerebrospinal fluid protein concentration. Additional signs and symptoms include strabismus, increased deep tendon reflexes, and foot deformities, among others. There have been no further descriptions in the literature since 1993.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Infantile choroidocerebral calcification syndrome | |
| fr | Calcifications du plexus choroïde, forme infantile | |
| de | Infantile Plexus choroideus-Kalzifikation-Syndrom | |
| es | Síndrome de calcificación del plexo coroideo infantil | |
| it | Sindrome da calcificazione infantile coroidea-cerebrale | |
| nl | Infantiel choroïdo-cerebrale calcificatie-syndroom | |
| pt | Síndrome de calcificações coroido-cerebrais forma infantil | |
| pl | Dziecięcy zespół zwapnienia błony naczyniowej i mózgu | |
| cs | Syndrom infantilní choroidocerebrální kalcifikace | |
| uk | Синдром дитячого хоріоїдоцеребрального кальцинозу | |
| zh | 婴儿脉络膜脑钙化综合征 | |
| tr | İnfantil koroidoserebral kalsifikasyon sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 215480 | E | validated | |
| ICD-10 | G93.8 | NTBT | attributed | validated |
| MONDO | 0008981 | E | validated | |
| MeSH | C535357 | E | validated | |
| UMLS | C1859092 | E | validated | |
| GARD | 1313 | 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 (3):
- ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases - ORPHA:98683Syndromic disorder with strabismus
rare ophthalmic disorders - ORPHA:522520Syndromic genetic disorder with strabismus
rare genetic 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 | 10 cases | Worldwide | Case(s) | Validated | 315525[PMID]_8232964[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_315525[PMID]_8232964[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
5 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002514 | Cerebral calcification | |
| HP:0001347 | Hyperreflexia | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0001250 | Seizure | |
| HP:0000486 | Strabismus | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1313
- This record as JSON: /data/d/1313.json