microcephaly lymphoedema chorioretinal dysplasia
MeSH: C537711ORPHA: 2526
Overview
syndrome characterized byvariable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability
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 microcephaly lymphoedema chorioretinal dysplasia, sourced from HPO and Orphanet clinical annotations.
Chorioretinal dysplasiaRetinal dysplasiaUnderdeveloped supraorbital ridgesChylothoraxThick vermilion borderPanniculitisScaling skinCellulitisGangreneSkin ulcerMicrocephalyAbnormality of the eyeAbnormality of visionLymphedemaMyopiaEdemaIntellectual disabilityHypotoniaGlobal developmental delaySpecific learning disabilityAbnormal hair morphologyLeukonychiaAbnormal retinal pigmentationAbnormal toenail morphologyMelanonychiaEpicanthusFull cheeksPointed chinSloping foreheadLong philtrumProtruding earWide nasal bridgeWide noseAnteverted naresRetinopathyAbnormal eyelid morphologyAbnormal eyelash morphologyGlaucomaPtosisCataractAnophthalmiaRetinal detachmentRetinal dystrophyMicrophthalmiaVisual lossUpslanted palpebral fissureAbnormal optic nerve morphologyAbnormal nasolacrimal system morphologyBlindnessAmblyopiaOptic atrophyDry skinErysipelasThickened skinSeizureSpasticityHypertoniaSubcutaneous noduleAtrial septal defectLeukemiaRigidityStatus epilepticusPleural effusionLymphomaSevere short statureMuscle stiffnessVenous thrombosis
Classification & Codes
MeSH Code
C537711Orphanet Code
ORPHA:2526microcephaly lymphoedema chorioretinal dysplasia
| MeSH | C537711 |
| Orphanet | ORPHA:2526 |
| Treatments | 0 drug(s) |
| Symptoms on record | 67 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO