Bardet-Biedl syndrome is a rare genetic disorder that affects cilia function and causes symptoms such as obesity, kidney failure, and learning disabilities. It is inherited in an autosomal recessive pattern and has no cure, but treatment focuses on relieving symptoms and providing genetic counseling. Diagnosis is based on symptoms and criteria established by researchers. Patients should see specialists regularly to monitor their condition and prevent complications. Genetic counseling can help avoid passing the condition on to children.
Bardet-Biedl syndrome is a rare genetic disorder that causes a variety of symptoms. It is considered a genetic human ciliopathic disease because the mutations that cause the syndrome affect the function of cilia, which are tiny hair-like protrusions located on the outside of cells. Symptoms of Bardet-Biedl typically include obesity, kidney failure, learning disabilities, and low sex hormone levels. The diagnosis of this condition is often made on the basis of the symptoms seen in the patients. Treatment of the disease focuses on relieving symptoms, reducing the risk of developing complications, and providing patients with genetic counseling.
A feature of Bardet-Biedl syndrome is that it is inherited in an autosomal recessive pattern, meaning that a person needs to have two abnormal copies of the affected gene to develop symptoms. Patients with only one bad copy are usually normal and have no symptoms. The condition is considered congenital, meaning patients with the syndrome have symptoms from birth.
The symptoms of Bardet-Biedl syndrome are typically divided into two categories, the primary features and the secondary features. Primary features such as mid-body obesity, learning disabilities, malfunctioning kidneys, and an abnormal eye condition called retinitis pigmentosa are commonly seen with the syndrome. Another primary feature is polydactyly, which is characterized by having extra digits or extra toes. Secondary features include abnormalities that are less clearly associated with Bardet-Biedl syndrome but are still often present in affected patients. Examples include behavioral problems, mental retardation, nonspecific eye abnormalities, delayed speech, poor coordination, diabetes mellitus, and heart problems.
The diagnosis of Bardet-Biedl syndrome is made based on an examination performed by a doctor or other health care professional. A number of researchers have proposed several diagnostic criteria that can be used to establish the diagnosis. For example, one group of researchers suggests that a patient must have four of the primary characteristics or three primary characteristics along with two secondary characteristics. Some researchers are working on creating tests to identify the specific genetic mutations seen in patients. However, developing these tests is difficult because mutations in 14 different genes have been identified as causing the syndrome.
Treatment of Bardet-Biedl syndrome focuses on relieving the symptoms caused by the condition, as the syndrome has no cure. Patients should see ophthalmologists regularly to monitor the development of their eye disease. These patients are often advised to limit their calorie intake and engage in regular physical activity in an effort to prevent excessive weight gain. Routine laboratory tests to check kidney function are also important in these patients, as disease involvement in this organ could be life-threatening.
Patients diagnosed with Bardet-Biedl syndrome may be offered genetic counseling to avoid passing the condition on to their children. If an affected man wants to have a child, his partner can be tested to see whether or not he has a faulty copy of the gene. A couple consisting of an affected individual and a partner who has a defective copy of the gene has a 50% chance of having a child with the syndrome.
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