Norman–Roberts syndrome
MeSH: C537848ORPHA: 89844
Overview
lissencephaly that has_material_basis_in homozygous mutation in the gene encoding reelin (RELN) on chromosome 7q22.
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 Norman–Roberts syndrome, sourced from HPO and Orphanet clinical annotations.
HypertelorismIntellectual disabilityAbnormal facial shape4-layered lissencephalyPrimary microcephalyMicrolissencephalyProminent occiputMicroretrognathiaSloping foreheadNarrow foreheadSmall foreheadLow-set earsWide nasal bridgeWide noseSeizureIntrauterine growth retardationAbnormal calvaria morphologyAbnormal muscle toneSevere global developmental delayFeeding difficultiesProfound global developmental delayDolichocephalyAbnormal retinal morphologyAdducted thumbCerebellar atrophyAgenesis of corpus callosumAtrial septal defectPatent foramen ovaleRocker bottom footDysphagiaHypoplasia of the corpus callosumRespiratory distressAbnormality of neuronal migrationCerebral calcificationHypoplastic spleen
Classification & Codes
MeSH Code
C537848Orphanet Code
ORPHA:89844Norman–Roberts syndrome
| MeSH | C537848 |
| Orphanet | ORPHA:89844 |
| Treatments | 0 drug(s) |
| Symptoms on record | 35 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO