Rare diseases · Sign or symptom
Thickened calvaria
Increased thickness of skull cap
HP:0002684
What it means
The presence of an abnormally thick calvaria.
Rare diseases that can present with this19
Very common80–99%
5Common30–79%
6Sometimes5–29%
8- Alpha-mannosidosis, infantile form
- Cockayne syndrome
- Fried syndrome
- GM1 gangliosidosis type 1
- Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome
- Macrocephaly-intellectual disability-left ventricular non compaction syndrome
- Osteopetrosis with renal tubular acidosis
- PDE4D haploinsufficiency 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: Calvarial thickening · Calvarium thickened · Increased calvarial thickness · Increased thickness of calvaria · Increased thickness of calvarium · Increased thickness of cranial vault · Increased thickness of cranium · Thick calvaria
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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.