Perlman syndrome
MeSH: C536399ORPHA: 2849
Overview
syndrome characterized by polyhydramnios with neonatal macrosomia, nephromegaly, distinctive facial appearance, renal dysplasia, nephroblastomatosis, and predisposition to Wilms tumor. It shows similarities to Beckwith-Wiedemann syndrome
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 Perlman syndrome, sourced from HPO and Orphanet clinical annotations.
Tall statureAbnormal upper lip morphologyOpen mouthMacrocephalyRetrognathiaRound faceSmooth philtrumMicrognathiaHigh foreheadWide nasal bridgeDeeply set eyeIntellectual disabilityHypotoniaGlobal developmental delaySpecific learning disabilityHepatomegalyShort noseCryptorchidismBroad alveolar ridgesEpicanthusPosteriorly rotated earsLow-set earsThickened helicesAnteverted naresHyperinsulinemiaNephroblastomaHigh, narrow palateHypoplasia of penisAbnormal pancreas morphologyInguinal herniaDolichocephalyPtosisSeizureStatus epilepticusCapillary hemangiomaBilateral single transverse palmar creasesNaevus flammeus of the eyelidFemoral hernia
Classification & Codes
MeSH Code
C536399Orphanet Code
ORPHA:2849Perlman syndrome
| MeSH | C536399 |
| Orphanet | ORPHA:2849 |
| Treatments | 0 drug(s) |
| Symptoms on record | 38 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO