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calvarial doughnut lesions-bone fragility syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

calvarial doughnut lesions-bone fragility syndrome

MONDO:0007470

Also known as:calvarial doughnut lesions with bone fragility with or without spondylometaphyseal dysplasiafamilial doughnut lesions of skulldoughnut lesions of skull, familial

Overview

This syndrome is characterized by multiple doughnut-shaped hyperostotic or osteosclerotic lesions of the calvaria.

GeneticsAutosomal dominant · SGMS2 (chr 4)

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 rarely findings: Severe short stature, Femoral bowing, Motor delay, and Platyspondyly and others. 12 total HPO annotations.

Organ System	Phenotype Count	Example Features
Bones and joints	5	Femoral bowing, Sideways curvature of the spine (scoliosis), Weak and brittle bones (osteoporosis)

Genetic Landscape

SGMS2 function has not been fully characterized.

Calvarial doughnut lesions-bone fragility syndrome is associated with mutations in the SGMS2 gene on chromosome 4.

Diagnosis

Genetic testing for SGMS2 is available. Testing is considered confirmatory for diagnosis.

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 calvarial doughnut lesions-bone fragility syndrome.

20 publications have been identified in PubMed for calvarial doughnut lesions-bone fragility syndrome. Research spans Basic Science / Preclinical (47%), Review / Meta-Analysis (21%), and Case Report / Case Series (16%).

Research Type	Count	% of Total
Laboratory research	9	47%

Data assembled from 6 of 12 sources · Last updated Oct 4, 2026, 6:18 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:126550

Orphanet

European rare disease database

Orphanet:85192

GARD

Genetic and Rare Diseases Info Center

GARD:16739

Questions for Your Care Team

→Should I pursue genetic testing for SGMS2, and what would the results mean for my family?
→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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calvarial doughnut lesions-bone fragility syndrome

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

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calvarial doughnut lesions-bone fragility syndrome

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications