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craniometadiaphyseal dysplasia, wormian bone type - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

craniometadiaphyseal dysplasia, wormian bone type

MONDO:0010014

Also known as:Schwartz-Lelek syndromeCRANIOMETADIAPHYSEAL dysplasiaCRMDD

Overview

Craniometadiaphyseal dysplasia, wormian bone type is an extremely rare craniotubular bone dysplasia syndrome described in fewer than 10 patients to date. Clinical manifestations include macrocephaly, frontal bossing, malar hypoplasia, prominent mandible and dental hypoplasia. Other skeletal anomalies include abnormal bone modeling in tubular bones, multiple wormian bones and deformities of chest, pelvis and elbows. An increased risk of fractures is noted.

GeneticsAutosomal recessive

ResearchLimited published research (3 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: Flared metaphysis, Megalencephaly, Short stature, and Wide anterior fontanel and 25 more.

Organ System	Phenotype Count	Example Features
Bones and joints	4	Mild bone density loss (osteopenia), Broad long bones, Sideways curvature of the spine (scoliosis)

Prognosis

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 craniometadiaphyseal dysplasia, wormian bone type.

3 publications have been identified in PubMed for craniometadiaphyseal dysplasia, wormian bone type. Research spans Case Report / Case Series (100%).

Recent Publications

Kumar U (2026). [PMID: 42083422](https://pubmed.ncbi.nlm.nih.gov/42083422/). *J Genet*. [Case Report / Case Series]
Cui L (2025). [PMID: 40639871](https://pubmed.ncbi.nlm.nih.gov/40639871/). *BMJ case reports*. [Case Report / Case Series]
Morelle G (2024). [PMID: 38734477](https://pubmed.ncbi.nlm.nih.gov/38734477/). *Lancet (London, England)*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 11:53 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:269300

Orphanet

European rare disease database

Orphanet:85184

GARD

Genetic and Rare Diseases Info Center

GARD:16737

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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craniometadiaphyseal dysplasia, wormian bone type

Overview

Clinical Presentation

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

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