Meacham syndrome
MONDO:0012164Mondo
Findings
No curated finding names Meacham syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Meacham syndrome is a multiple malformation syndrome characterized by congenital diaphragmatic abnormalities, genital defects and cardiac malformations.
Definition from the Mondo Disease Ontology (MONDO:0012164), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Death in infancy · Congenital onset · Neonatal death · Death in childhood · Stillbirth
HPO, annotations 2026-09-02
Features
45 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Male pseudohermaphroditismHPOHP:0000037
- 13 of 13 reported patients
- Abnormal fallopian tube morphologyHPOHP:0011027
- Very frequent (80% to 99% of cases)
- Abnormal vagina morphologyHPOHP:0000142
- Very frequent (80% to 99% of cases)
- Ambiguous genitaliaHPOHP:0000062
- Very frequent (80% to 99% of cases)
- Aplasia/Hypoplasia of the lungsHPOHP:0006703
- Very frequent (80% to 99% of cases)
- Congenital diaphragmatic herniaHPOHP:0000776
- Very frequent (80% to 99% of cases)
Show the remaining 33
- Hypoplastic left ventricleHPOHP:0004383
- 5 of 13 reported patients
- Frequent (30% to 79% of cases)
- Pulmonary sequestrationHPOHP:0100632
- Frequent (30% to 79% of cases)
- Aplasia of the left hemidiaphragmHPOHP:0009112
- 7 of 13 reported patients
- Septate vaginaHPOHP:0001153
- 6 of 13 reported patients
- Abnormality of the spleenHPOHP:0001743
- Occasional (5% to 29% of cases)
- Anomalous pulmonary venous returnHPOHP:0010772
Where it sits
Other names
2 names
Resolves to: Meacham syndrome
- Also called
- Meacham-Winn-Culler syndromeRhabdomyomatous dysplasia-cardiopathy-genital anomalies syndrome