Rare diseases · Sign or symptom
Craniofacial hyperostosis
Excessive bone growth of the skull and face
HP:0004493
What it means
Excessive growth of the craniofacial bones.
Rare diseases that can present with this19
Very common80–99%
13- Alpha-mannosidosis
- AREDYLD syndrome
- Coffin-Lowry syndrome
- Craniodiaphyseal dysplasia
- Craniometaphyseal dysplasia
- Dysosteosclerosis
- Endosteal hyperostosis, Worth type
- Fountain syndrome
- Ghosal hematodiaphyseal dysplasia
- Intellectual disability-myopathy-short stature-endocrine defect syndrome
- Mucolipidosis type III
- Myhre syndrome
- Sclerosteosis
Common30–79%
5The 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: Enlargement of craniofacial bones · Excessive growth of craniofacial bones · Hyperostosis of craniofacial bones · Hypertrophy of craniofacial bones · Increased ossification of craniofacial bones · Overgrowth of craniofacial bones · Thick craniofacial bones
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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.