Cortical blindness-intellectual disability-polydactyly syndrome
historical
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Neonatal
- Status
- historical
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by congenital, total, cortical blindness, intellectual disability, postaxial polydactyly of the hands and feet, pre- and postnatal growth delay, psychomotor developmental retardation, and mild facial dysmorphism (incl. prominent forehead, short nose, long philtrum, high-arched palate, and microretrognathia). Recurrent respiratory and intestinal infections, as well as moderate hypertonia and hyperreflexia, are also associated. There have been no further descriptions in the literature since 1985.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Cortical blindness-intellectual disability-polydactyly syndrome | |
| fr | Syndrome de cécité corticale-déficience intellectuelle-polydactylie | |
| de | Kortikale Blindheit-Intelligenzminderung-Polydaktylie-Syndrom | |
| es | Síndrome de ceguera cortical-discapacidad intelectual-polidactilia | |
| it | Sindrome da cecità corticale, disabilità intellettiva e polidattilia | |
| nl | Corticale blindheid - intellectuele achterstand - polydactylie-syndroom | |
| pt | Síndrome de cegueira cortical-perturbação do desenvolvimento intelectual-polidactilia | |
| pl | Ślepota korowa - niepełnosprawność intelektualna - polidaktylia | |
| cs | Syndrom zahrnující kortikální slepotu, mentální retardaci a polydaktylii | |
| uk | Синдром коркової сліпоти - інтелектуальної недостатності - полідактилії | |
| zh | 皮质盲-智力障碍-多指（趾）综合征 | |
| tr | Kortikal körlük-zihinsel yetersizlik-polidaktili sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 218010 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0009024 | E | validated | |
| UMLS | C4517339 | E | validated | |
| GARD | 1548 | 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 (4):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:522508Rare genetic ophthalmic disorder with cortical involvement
rare genetic diseases - ORPHA:519343Rare ophthalmic disorder with cortical involvement
rare ophthalmic disorders
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 | 3 cases | Worldwide | Case(s) | Validated | 4064363[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_4064363[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
14 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000174 | Abnormal palate morphology | |
| HP:0000649 | Abnormality of visual evoked potentials | |
| HP:0004326 | Cachexia | |
| HP:0100704 | Cerebral visual impairment | |
| HP:0001249 | Intellectual disability | |
| HP:0000343 | Long philtrum | |
| HP:0000308 | Microretrognathia | |
| HP:0001162 | Postaxial hand polydactyly | |
| HP:0011220 | Prominent forehead | |
| HP:0002205 | Recurrent respiratory infections | |
| HP:0003196 | Short nose | |
| HP:0004322 | Short stature | |
| Frequent (79-30%) | ||
| HP:0001347 | Hyperreflexia | |
| HP:0001276 | Hypertonia | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1389
- This record as JSON: /data/d/1389.json