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Features include always present findings: Calvarial hyperostosis; and common findings: Anteverted nares, High forehead, Occipital horn, and Depressed nasal bridge.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Brain and nerves | 1 | Depressed nasal bridge |
Phenotype severity distribution: 1 always present feature, 4 common features.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for X-linked calvarial hyperostosis.
9 publications have been identified in PubMed for X-linked calvarial hyperostosis. Research spans Case Report / Case Series (78%), Basic Science / Preclinical (11%), and Epidemiology / Natural History (11%).
Steinmetz A (2026). [PMID: 39988334](https://pubmed.ncbi.nlm.nih.gov/39988334/). *Vet Ophthalmol*. [Case Report / Case Series]
Camelo-Filho AE (2026). [PMID: 41737973](https://pubmed.ncbi.nlm.nih.gov/41737973/). *Clin Case Rep*. [Case Report / Case Series]
Menendez P (2025). [PMID: 40696260](https://pubmed.ncbi.nlm.nih.gov/40696260/). *J Small Anim Pract*. [Case Report / Case Series]
Patra S (2025). [PMID: 40123745](https://pubmed.ncbi.nlm.nih.gov/40123745/). *Bone Rep*. [Case Report / Case Series]
Travail V (2025). [PMID: 41018965](https://pubmed.ncbi.nlm.nih.gov/41018965/). *Front Vet Sci*. [Case Report / Case Series]
Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 8:40 AM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
Common questions about X-linked calvarial hyperostosis
Beers BG (2024). [PMID: 39255206](https://pubmed.ncbi.nlm.nih.gov/39255206/). *J Zoo Wildl Med*. [Epidemiology / Natural History]
Edwards MR (2024). [PMID: 38332673](https://pubmed.ncbi.nlm.nih.gov/38332673/). *Vet Comp Oncol*. [Basic Science / Preclinical]
Thon A (2024). [PMID: 39282056](https://pubmed.ncbi.nlm.nih.gov/39282056/). *JFMS Open Rep*. [Case Report / Case Series]