Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

craniodiaphyseal dysplasia - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

craniodiaphyseal dysplasia

MONDO:0009031

Also known as:LionitisCDD

Overview

Craniodiaphyseal dysplasia is a rare sclerotic bone disorder with a variable phenotypic expression with massive generalized hyperostosis and sclerosis, particularly of the skull and facial bones, that may lead to severe deformity.

ResearchLimited published research (2 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include very common findings: Macrocephaly, Coarse facial features, Wide nasal bridge, and Abnormal rib morphology and others; and common findings: Stenosis of the external auditory canal and Conductive hearing impairment. 13 total HPO annotations.

Organ System	Phenotype Count	Example Features
Head and neck	3	Macrocephaly, Coarse facial features, Craniofacial hyperostosis

Prognosis

Phenotype severity distribution: 10 very common features, 2 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for craniodiaphyseal dysplasia.

2 publications have been identified in PubMed for craniodiaphyseal dysplasia. Research spans Case Report / Case Series (50%) and Basic Science / Preclinical (50%).

Recent Publications

Guo Y (2025). [PMID: 40605263](https://pubmed.ncbi.nlm.nih.gov/40605263/). *Molecular genetics & genomic medicine*. [Basic Science / Preclinical]
Cui L (2025). [PMID: 40639871](https://pubmed.ncbi.nlm.nih.gov/40639871/). *BMJ case reports*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 8:52 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:218300

Orphanet

European rare disease database

Orphanet:1513

GARD

Genetic and Rare Diseases Info Center

GARD:1567

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

craniodiaphyseal dysplasia

Overview

Clinical Presentation

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features