Living with Bardet-Biedl syndrome 12
A genetic condition that affects vision, weight, the hands and feet, the kidneys, and learning.
Understanding Bardet-Biedl syndrome 12
BBS includes rod-cone dystrophy (a retina condition), weight gain around the trunk, extra fingers or toes, learning difficulty, low sex hormones in males, reproductive and urinary differences in females, and kidney differences. Night blindness is usually seen by age 7 to 8, and the average age of legal blindness is 15.5 years. Weight gain begins in the first year.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Retina breakdown (rod-cone dystrophy)
- Obesity
- Extra fingers or toes (polydactyly)
- Lower sex hormone levels (hypogonadism)
- Kidney differences (cystic dysplasia, hydronephrosis)
- Closed or absent vagina (vaginal atresia)
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 Bardet-Biedl Syndrome Foundation & Family Association
- 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
It is autosomal recessive, so a child inherits a changed copy of a gene from each parent. GARD does not name a gene here.
Also known as: bardet-biedl syndrome caused by mutation in bbs12; bardet-biedl syndrome type 12; bbs12; bbs12 bardet-biedl syndrome
Patient organizations
- Bardet-Biedl Syndrome Foundation & Family AssociationBardet-Biedl syndrome 12 · United States
You are more than your diagnosis
Perspectives from people navigating life with Bardet-Biedl syndrome 12.
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