Lambert syndrome

MeSH: C538396ORPHA: 1296

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 Lambert syndrome, sourced from HPO and Orphanet clinical annotations.

Inguinal herniaHypospadiasWide mouthMalar flatteningPreauricular skin tagJaundiceIntellectual disabilityHypotoniaCholestasisIntrauterine growth retardationFailure to thrive in infancyVentricular septal defectDecreased circulating immunoglobulin concentrationIntrahepatic biliary atresiaAplasia/Hypoplasia of the cerebellumBranchial anomaly

Classification & Codes

MeSH Code

C538396

Orphanet Code

ORPHA:1296
Lambert syndrome
MeSHC538396
OrphanetORPHA:1296
Treatments0 drug(s)
Symptoms on record16 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO