Matthew-Wood syndrome
ORPHA: 2470
Overview
autosomal genetic disease that is characterized by microphthalmia or anophthalmia, pulmonary agenesis, and diaphragmatic defect
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 Matthew-Wood syndrome, sourced from HPO and Orphanet clinical annotations.
AnophthalmiaMicrophthalmiaIntellectual disabilityCongenital diaphragmatic herniaAbnormal lung morphologyPulmonary hypoplasiaAbnormal cardiovascular system morphologyCryptorchidismVesicoureteral refluxHorseshoe kidneyRenal hypoplasiaAbnormality of the uterusLow-set earsHypotoniaFailure to thriveIntrauterine growth retardationAnnular pancreasAbnormal spleen morphologyAplasia/Hypoplasia of the pancreasDuodenal stenosis
Classification & Codes
Orphanet Code
ORPHA:2470Matthew-Wood syndrome
| Orphanet | ORPHA:2470 |
| Treatments | 0 drug(s) |
| Symptoms on record | 20 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO