Bardet Biedl Syndrome

Bardet Biedl syndrome (BBS) is a genetic disorder that affects the brain. It affects vision and caused intellectual impairment. This syndrome may also cause obesity, renal disease, and extra digits on the hands and feet. It is a genetically heterogeneous condition as it occurs due to more than one known genetic cause.

This disorder is characterized by mental retardation, pigmentary retinopathy, and hypogenitalism, and polydactyly.  BBS occurs differently from person to person and certain features appear frequently, even among members of the same family.

Symptoms of Bardet Biedl Syndrome

This syndrome is difficult to diagnose principally because it is rare and only a few cases have been available for scientific study.  In the handful of cases reported, the symptoms vary from person to person. The syndrome is difficult to diagnose and treat at a very young as symptoms appear progressively.

What is the root cause of Bardet Biedl syndrome?

While medical research on the syndrome is ongoing, the evidence suggests that this genetic disorder is inherited from parents, each of whom carries the recessive gene and passes it on to the child. The syndrome is rare since 1 in 179 people carries the recessive gene but does not exhibit symptoms of the disorder. This lowers the chances of two carriers contributing the same recessive gene to their offspring.

What are the typical symptoms of Bardet Biedl Syndrome?

The common symptoms exhibited are:

• Vision problems- near-sightedness, glaucoma, cataracts, strabismus, and involuntary eye movement.
• The retina degenerates over time with night blindness appearing by age 9 and complete loss of vision by age 15.
• The child has extra partially or fully formed digits or toes.
• The toes are webbed
• The child is obese
• The child has neurological impairment leading to learning difficulties
• The males exhibit underdeveloped genitalia.
• The child is predisposed to renal complications which are a major cause of children diagnosed with Bardet Biedl syndrome having shorter life spans.
• The sense of smell is affected with patients either having no sense of smell or being acutely sensitive to smell.
• The heart is often dilated.
• Fibrosis may be present in the gastrointestinal system.
• The cardiovascular system may exhibit Hypertrophy of the interventricular septum with the left ventricle and dilated cardiomyopathy.

Treatment of Bardet Biedl Syndrome:

There is no standard line of treatment for this syndrome. The patient suffering from this disorder has learning difficulties, delayed or low response to social cues, and impaired motor development. The treatment has often been on the lines of treatment for autism. Physical and occupational therapy can help the child develop basic motor skills and muscular control.

The main challenge is in treating loss of vision which is progressive in a child with Bardet Biedl syndrome. Ophthalmologists and experts in treating low vision can be of infinite help here.