Rare diseases · Sign or symptom
Pulmonic stenosis
Narrowing of pulmonic valve
HP:0001642
What it means
A narrowing of the right ventricular outflow tract that can occur at the pulmonary valve (valvular stenosis), below the pulmonary valve (infundibular stenosis), or above the pulmonary valve (supravalvar stenosis).
Pulmonic stenosis is often seen as a part of Fallot' s tetralogy, in which case the events leading to the formation of the overriding aorta are also believed to be a cause of the pulmonic stenosis. The pulmonic stenosis is the major cause of the malformations seen in patients with Fallot tetralogy, with the other associated malformations acting as compensatory mechanisms to the pulmonic stenosis. The degree of stenosis varies between individuals with TOF, and is the primary determinant of symptoms and severity.
Rare diseases that can present with this56
Very common80–99%
7Common30–79%
11- 3C syndrome
- Congenitally corrected transposition of the great arteries
- Criss-cross heart
- Double outlet right ventricle
- Dysplastic cortical hyperostosis, Al-Gazali type
- Emanuel syndrome
- Fallot complex-intellectual disability-growth delay syndrome
- Noonan syndrome-like disorder with loose anagen hair
- Peters plus syndrome
- SERKAL syndrome
- Williams syndrome
Sometimes5–29%
27- 17q11microdeletion syndrome
- 8p23.1duplication syndrome
- Acquired von Willebrand syndrome
- Aneurysm-osteoarthritis syndrome
- Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome
- Cerebrofacioarticular syndrome
- Common arterial trunk
- Congenital Gerbode defect
and 19 more in this range
Rare1–4%
11- 17q24.2microdeletion syndrome
- Ileal neuroendocrine tumor
- Legius syndrome
- Mayer-Rokitansky-Küster-Hauser syndrome
- Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion
- PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
- Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
- Rubinstein-Taybi syndrome due to CREBBP mutations
and 3 more in this range
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: Pulmonary stenosis · Pulmonary valve stenosis · Pulmonic valve stenosis
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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.