Weill-Marchesani syndrome
MeSH: D056846ORPHA: 3449
Overview
autosomal genetic disease characterized by short stature, brachycephaly and other facial abnormalities, brachydactyly, joint stiffness and distinctive ocular abnormalities
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 Weill-Marchesani syndrome, sourced from HPO and Orphanet clinical annotations.
GlaucomaBrachydactylyShort statureShort thumbHigh myopiaMicrospherophakiaThickened skinEctopia lentisLimitation of joint mobilityAbnormal cardiovascular system morphologyCataractVisual lossMild intellectual disabilityJoint stiffnessVentricular septal defectPulmonic stenosisPatent ductus arteriosusAortic valve stenosisMitral regurgitationDelayed skeletal maturationProlonged QTc interval
Classification & Codes
MeSH Code
D056846Orphanet Code
ORPHA:3449Weill-Marchesani syndrome
| MeSH | D056846 |
| Orphanet | ORPHA:3449 |
| Treatments | 0 drug(s) |
| Symptoms on record | 21 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO