Bardet-Biedl Syndrome
Description
Bardet-Biedl syndrome (BBS) is a rare genetic disorder that affects multiple body systems, including vision, hearing, and kidney function. It is characterized by a unique combination of symptoms, making it crucial to understand its complexities for proper diagnosis and management. This blog delves into the intricacies of BBS, shedding light on its signs and symptoms, causes, inheritance patterns, diagnostic procedures, and effective management strategies. We also explore how individuals living with BBS can lead fulfilling lives and navigate challenges with resilience.
Genes Involved
Genes Involved
Bardet-Biedl syndrome is caused by mutations in genes involved in the formation of cilia, tiny hair-like structures found on the surface of cells. These cilia play crucial roles in cell signaling and movement. To date, over 20 genes have been linked to BBS, including:
Recognizing the Signs and Symptoms
Recognizing the Signs and Symptoms
Bardet-Biedl syndrome typically manifests with a range of symptoms, often appearing during childhood. Some common features include:
- Vision Loss: Retinitis pigmentosa, a condition causing progressive vision loss, is a hallmark of BBS.
- Obesity: Individuals with BBS often experience excessive weight gain, contributing to potential health complications.
- Polydactyly: Extra fingers or toes are a common characteristic.
- Hypogonadism: Delayed puberty and reduced reproductive function are also associated with BBS.
- Kidney Abnormalities: Kidney dysfunction can lead to complications like kidney failure.
- Learning Disabilities: Cognitive delays are often observed in individuals with BBS.
- Cleft Palate: This condition involves an opening in the roof of the mouth.
- Other: Other potential symptoms include heart defects, dental abnormalities, and speech difficulties.
Causes
Causes
Bardet-Biedl syndrome is a genetic disorder. It is inherited in an autosomal recessive pattern, meaning that both parents must carry a copy of the mutated gene for their child to inherit the condition. If both parents carry a copy of the same mutated gene, there is a 25% chance their child will inherit the disorder.
Inheritance/recurrence risk
Inheritance or Recurrence Risk
If one child in a family is diagnosed with Bardet-Biedl syndrome, there is a 25% chance that each subsequent child will also have the disorder. Genetic testing can help determine if parents are carriers of the BBS gene and assess the risk of having a child with the syndrome.
