Megalocornea-mental retardation syndrome
MeSH: C536143ORPHA: 24791 Treatment Available
Overview
medical condition
Available Treatments (1)
| Drug | Form | Status | Countries | Lead Time |
|---|---|---|---|---|
| atropine sulfate | ophthalmic solution 0.5%, 1% | FDA Approved | 7 | 7d |
Clinical Presentation
Signs and symptoms associated with Megalocornea-mental retardation syndrome, sourced from HPO and Orphanet clinical annotations.
Joint hypermobilityMicrognathiaMegalocorneaIntellectual disabilityHypotoniaGlobal developmental delayFrontal bossingAbnormal speech patternAbnormality of immune system physiologyOpen mouthHigh palateEpicanthusHypertelorismWide nasal bridgeDownslanted palpebral fissuresMyopiaAbnormal anterior chamber morphologyMotor stereotypyTapered fingerSeizureScoliosisKyphosisGenu varumShort statureHypoplasia of the irisMetatarsus valgusIridodonesisEverted lower lip vermilionMicrocephalyMacrocephalyShort philtrumSensorineural hearing impairmentProtruding earAstigmatismNystagmusHypothyroidismOsteopeniaAtaxiaEEG abnormalityHypercholesterolemiaUnderdeveloped supraorbital ridges
Classification & Codes
MeSH Code
C536143Orphanet Code
ORPHA:2479Megalocornea-mental retardation syndrome
| MeSH | C536143 |
| Orphanet | ORPHA:2479 |
| Treatments | 1 drug(s) |
| Symptoms on record | 41 signs |
| Status | published |
Treatment Summary
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO