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

Rare Disease

pacman dysplasia

MONDO:0008175

Also known as:epiphyseal stippling syndrome-osteoclastic hyperplasia syndromePacman syndromeepiphyseal stippling with osteoclastic hyperplasia

Overview

Pacman dysplasia is characterized by epiphyseal stippling and osteoclastic overactivity. It has been described in less than 10 patients but may be underdiagnosed. It is characterized radiographically by severe stippling of the lower spine and long bones, and periosteal cloaking. Patients also have short metacarpals. The syndrome may be inherited as an autosomal recessive trait. This disorder should be included in the differential diagnosis of mucolipidosis type II. In order to make a definitive diagnosis, lysosomal storage should be investigated by electron microscopy, or enzyme assays should be performed. Familial recurrence can be easily detected by prenatal ultrasonography. This skeletal dysplasia is lethal.

GeneticsAutosomal dominant

ResearchLimited published research (5 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: Bowing of the long bones, Lethal skeletal dysplasia, and Epiphyseal stippling.

Organ System	Phenotype Count	Example Features
Bones and joints	2	Bowing of the long bones, Lethal skeletal dysplasia

Explore clinical features

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 pacman dysplasia.

5 publications have been identified in PubMed for pacman dysplasia. Research spans Review / Meta-Analysis (60%), Clinical Trial Publication (20%), and Epidemiology / Natural History (20%).

Recent Publications

Goel PK (2026). [PMID: 42019820](https://pubmed.ncbi.nlm.nih.gov/42019820/). *Indian Heart J*. [Review / Meta-Analysis]
Pradhan A (2025). [PMID: 40863366](https://pubmed.ncbi.nlm.nih.gov/40863366/). *Journal of cardiovascular development and disease*. [Clinical Trial Publication]
Longo C (2024). [PMID: 39535426](https://pubmed.ncbi.nlm.nih.gov/39535426/). *Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology*. [Epidemiology / Natural History]
Seo Y (2024). [PMID: 38689093](https://pubmed.ncbi.nlm.nih.gov/38689093/). *Experimental & molecular medicine*. [Review / Meta-Analysis]
Barbieri L (2024). [PMID: 39150672](https://pubmed.ncbi.nlm.nih.gov/39150672/). *Current atherosclerosis reports*. [Review / Meta-Analysis]

Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 6:03 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:167220

Orphanet

European rare disease database

Orphanet:1952

GARD

Genetic and Rare Diseases Info Center

GARD:4189

Questions for Your Care Team

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pacman dysplasia

Overview

Clinical Presentation

Explore clinical features

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team