cortical blindness-intellectual disability-polydactyly syndrome
MeSH: C565674ORPHA: 1389
Overview
This syndrome is characterised by cortical blindness, intellectual deficit, and polydactyly
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with cortical blindness-intellectual disability-polydactyly syndrome, sourced from HPO and Orphanet clinical annotations.
Abnormal palate morphologyMicroretrognathiaLong philtrumAbnormality of visual evoked potentialsPostaxial hand polydactylyIntellectual disabilityHypertoniaHyperreflexiaRecurrent respiratory infectionsShort noseShort statureCachexiaProminent foreheadCerebral visual impairment
Classification & Codes
MeSH Code
C565674Orphanet Code
ORPHA:1389cortical blindness-intellectual disability-polydactyly syndrome
| MeSH | C565674 |
| Orphanet | ORPHA:1389 |
| Treatments | 0 drug(s) |
| Symptoms on record | 14 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO