Definition
Bardet-Biedl syndrome is an autosomal recessive ciliopathic disease characterized by obesity, retinal dystrophy, polydactyly, renal anomalies, hypogonadism and learning disabilities.
Symptoms
- Obesity
- Retinitis pigmentosa (vision loss)
- Polydactyly (extra fingers)
- Kidney failure
Reasons
Mutation in one of the BBS genes (ciliary dysfunction).
Diagnosis
Clinical criteria, genetic testing.
Treatment
Symptomatic treatment (diet, vision rehabilitation, kidney therapy).
Which Polyclinic Should You Apply To?
Genetics Polyclinic or Pediatric Nephrology Outpatient Clinic
What to Do in an Emergency?
In case of renal failure or diabetic ketoacidosis, emergency services should be consulted.
This page is for general information purposes only.