Oculocerebrocutaneous syndrome
MeSH: C538088ORPHA: 1647
Overview
Oculocerebrocutaneous syndrome (OCCS) is a rare congenital disorder associated with an intellectual disability and is typically characterized by the triad of eye, central nervous system and skin malformations
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 Oculocerebrocutaneous syndrome, sourced from HPO and Orphanet clinical annotations.
Preauricular skin tagPtosisIntellectual disabilitySeizureCerebellar hypoplasiaPolymicrogyriaAbnormal cerebellar vermis morphologyAplasia/Hypoplasia of the skinSkin tagsCryptorchidismHydrocephalusEyelid colobomaAbnormal rib morphologyHypopigmented skin patchesCalvarial skull defectAlopeciaVentriculomegalyHemiplegia/hemiparesisAplasia/Hypoplasia of the corpus callosumWide mouthOrofacial cleftHypertelorismHearing impairmentIris colobomaNystagmusCongenital diaphragmatic herniaMissing ribsHand polydactylyAbnormal fingernail morphologyDysarthriaDandy-Walker malformationCongenital hip dislocationTalipesTessier cleftFinger syndactylyCorneal opacityShort distal phalanx of fingerAplasia/Hypoplasia of the distal phalanges of the toesExostosesAbnormal pinna morphology
Classification & Codes
MeSH Code
C538088Orphanet Code
ORPHA:1647Oculocerebrocutaneous syndrome
| MeSH | C538088 |
| Orphanet | ORPHA:1647 |
| Treatments | 0 drug(s) |
| Symptoms on record | 40 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO