Living with Calvarial doughnut lesions-bone fragility syndrome
A rare genetic bone condition with doughnut-shaped lumps in the skull and bones that break easily.
Understanding Calvarial doughnut lesions-bone fragility syndrome
The spots show as lumps on the head. People have many fractures, thin bones (osteopenia), and high levels of the enzyme alkaline phosphatase in the blood. It is noted in childhood.
Signs & symptoms
GARD lists these as less common symptoms, and doesn't list a most common list:
- Lumps on the skull (doughnut lesions)
- Bones that break easily (fractures)
- Thin bones (osteopenia)
- Bowed thigh bone
- Hearing loss
- Delayed motor skills
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include bone and joint specialists and genetic specialists.
- 3Consider genetic testing
Changes in SGMS2 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with rare disease patient organizations for support
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the SGMS2 gene cause this condition. It is autosomal dominant, so one changed copy of the gene is enough.
Also known as: calvarial doughnut lesion with bone fragility syndrome; calvarial doughnut lesions with bone fragility with or without spondylometaphyseal dysplasia; doughnut lesion of calvaria and bone fragility syndrome; doughnut lesions of skull, familial; familial doughnut lesions of skull
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Calvarial doughnut lesions-bone fragility syndrome.
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