Rare diseases · Sign or symptom
Perimembranous ventricular septal defect
HP:0011682
What it means
A ventricular septal defect that is confluent with and involves the membranous septum and is bordered by an atrioventricular valve, not including the type 3 VSDs.
Rare diseases that can present with this7
Sometimes5–29%
6- Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome
- Coarctation of aorta
- Congenitally corrected transposition of the great arteries
- Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome
- Laubry-Pezzi syndrome
- THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
The range is how often this sign appears among people diagnosed with each disease — it is not a probability of having any of them. Many of these signs also occur in common, non-rare conditions. A sign on this page is a conversation to have with a clinician, not a conclusion.
Part of the broader category
Also called: Conoventricular ventricular septal defect · Membranous ventricular septal defect · Paramembranous ventricular septal defect · Perimembraneous ventricular septal defect · Type 2 ventricular septal defect · Ventricular septal defect, perimembranous
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Start free with EleplanThis page uses the Human Phenotype Ontology (2026-06-23) — Human Phenotype Ontology Consortium, hpo.jax.org. Disease associations from Orphanet (INSERM), CC BY 4.0. Content is educational and is not medical advice.