Rare diseases · Sign or symptom
Infantile spasms
HP:0012469
What it means
Infantile spasms represent a subset of "epileptic spasms". Infantile Spasms are epileptic spasms starting in the first year of life (infancy).
Rare diseases that can present with this52
Very common80–99%
5Common30–79%
10- CDKL5-deficiency disorder
- FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome
- FOXG1 syndrome
- Isolated lissencephaly type 1 without known genetic defects
- Lissencephaly type 1 due to doublecortin gene mutation
- Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency
- Pontocerebellar hypoplasia type 2
- SLC35A2-CDG
- Sturge-Weber syndrome
- Tuberous sclerosis complex
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
Tracking symptoms like this for someone? Eleplan keeps symptoms, diagnoses, medications and every specialist in one plan.
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.