Living with Cerebral gigantism-jaw cysts syndrome
A condition, also called nevoid basal cell carcinoma syndrome, that causes jaw cysts and skin cancers called basal cell carcinomas.
Understanding Cerebral gigantism-jaw cysts syndrome
Jaw cysts often begin in the second decade of life, and skin cancers usually start from the third decade onward. About 60% of people have a recognizable look, with a large head, a prominent forehead, and coarse facial features. Most have bone differences such as split ribs. Calcium deposits in a brain membrane (the falx) are present in more than 90% by age 20.
Signs & symptoms
GARD doesn't list a separate symptom list for this condition. Its summary describes these features:
- Multiple jaw cysts (keratocysts)
- Basal cell skin cancers
- Large head (macrocephaly)
- Prominent forehead (frontal bossing)
- Coarse facial features and small white bumps (milia)
- Bone differences like split ribs and wedge-shaped vertebrae
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
Your doctor may refer you to a specialist who knows rare conditions.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- A doctor familiar with rare conditions, plus specialists as needed
- 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
GARD doesn't describe a cause for this condition in the text we have.
Also known as: cramer-niederdellmann syndrome
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 Cerebral gigantism-jaw cysts syndrome.
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