Rare diseases · Sign or symptom
Macrocephaly at birth
Big skull present at birth
HP:0004488
What it means
The presence of an abnormally large skull with onset at birth.
Rare diseases that can present with this4
Common30–79%
3The 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: Big cranium present at birth · Big cranium present since birth · Big head present at birth · Big head present since birth · Big skull present since birth · Congenital large cranium · Congenital large head · Congenital large skull
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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.