microlissencephaly-micromelia syndrome
ORPHA: 50810
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 microlissencephaly-micromelia syndrome, sourced from HPO and Orphanet clinical annotations.
Long philtrumShort neckHypoparathyroidism11 pairs of ribsAdducted thumbSeizureHypotoniaGlobal developmental delayHypertoniaAreflexiaCerebellar hypoplasiaLissencephalyFailure to thrivePolyhydramniosRespiratory distressEEG abnormalityMicromeliaShort noseGeneralized hypertrichosisSecondary microcephalyBilateral single transverse palmar creasesFetal pyelectasisAbnormal circulating calcium-phosphate regulating hormone concentrationPalpebral edemaCoarse facial features
Classification & Codes
Orphanet Code
ORPHA:50810microlissencephaly-micromelia syndrome
| Orphanet | ORPHA:50810 |
| Treatments | 0 drug(s) |
| Symptoms on record | 25 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO