Meacham syndrome

ORPHA: 3097

Contents

1. Overview
2. Available Treatments
3. Clinical Presentation
4. Classification & Codes

Overview

Meacham syndrome is a multiple malformation syndrome characterized by congenital diaphragmatic abnormalities, genital defects and cardiac malformations

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 Meacham syndrome, sourced from HPO and Orphanet clinical annotations.

Ambiguous genitaliaAbnormal vagina morphologyVaginal atresiaCongenital diaphragmatic herniaAplasia/Hypoplasia of the lungsAbnormal fallopian tube morphologyCryptorchidismAbnormal lung lobationHypoplastic left ventricleHypoplasia of penisHydrometrocolposPulmonary sequestrationHorseshoe kidneyVentricular septal defectAtrial septal defectTetralogy of FallotPatent ductus arteriosusAortic valve stenosisTransposition of the great arteriesCoarctation of aortaSitus inversus totalisConotruncal defectAbnormality of the spleenCrossed fused renal ectopiaAnomalous pulmonary venous return

Classification & Codes

Orphanet Code

ORPHA:3097

Meacham syndrome

Orphanet	`ORPHA:3097`
Treatments	0 drug(s)
Symptoms on record	25 signs
Status	published

Factual Authority

Last Updated3/20/2026

Clinical DataHPO · Orphanet

Drug DataFDA · EMA · CDSCO