Living with Al Gazali Khidr Prem Chandran syndrome
An extremely rare condition with jaw bone growths (cherubism), vision loss from optic atrophy, and short height.
Understanding Al Gazali Khidr Prem Chandran syndrome
Cherubism is a condition in which the lower and upper jaws become enlarged, starting in early childhood, as bone is replaced by painless, cyst-like growths. People also have vision loss from optic atrophy. GARD says only one patient or family has been described.
Signs & symptoms
Symptoms vary. GARD's summary says the condition includes:
- Enlarged jaws from painless, cyst-like bone growths (cherubism)
- Vision loss from optic atrophy
- Short height
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 lists autosomal dominant inheritance, so a changed copy of a gene from one parent can be enough. It doesn't name a gene.
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 Al Gazali Khidr Prem Chandran syndrome.
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