Rare diseases · Sign or symptom
Death in infancy
Infantile death
HP:0001522
What it means
Death within the first 24 months of life.
Rare diseases that can present with this51
Very common80–99%
14- Amish lethal microcephaly
- Bowen-Conradi syndrome
- Campomelia, Cumming type
- COFS syndrome
- Congenital lethal erythroderma
- Crisponi syndrome
- Encephalopathy due to prosaposin deficiency
- Fetal Gaucher disease
- Hamel cerebro-palato-cardiac syndrome
- Sudden infant death-dysgenesis of the testes syndrome
- Vici syndrome
- X-linked neurodegenerative syndrome, Bertini type
- X-linked neurodegenerative syndrome, Hamel type
- Zellweger syndrome
Common30–79%
15- 3C syndrome
- Cerebrocostomandibular syndrome
- Haddad syndrome
- Heart defects-limb shortening syndrome
- Hurler syndrome
- Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome
- Juvenile hyaline fibromatosis
- Lung agenesis-heart defect-thumb anomalies syndrome
- Lynch syndrome
- PAGOD syndrome
- Peroxisomal acyl-CoA oxidase deficiency
- Simpson-Golabi-Behmel syndrome
- TMEM70-related mitochondrial encephalo-cardio-myopathy
- X-linked dominant chondrodysplasia, Chassaing-Lacombe type
- X-linked lissencephaly with abnormal genitalia
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: Death in early childhood · Lethal in infancy
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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.