LAURENCE MOON BARDET BIEDL SYNDROME PDF

Description Bardet-Biedl syndrome is a disorder that affects many parts of the body. The signs and symptoms of this condition vary among affected individuals, even among members of the same family. Vision loss is one of the major features of Bardet-Biedl syndrome. Loss of vision occurs as the light-sensing tissue at the back of the eye the retina gradually deteriorates.

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Description Bardet-Biedl syndrome is a disorder that affects many parts of the body. The signs and symptoms of this condition vary among affected individuals, even among members of the same family. Vision loss is one of the major features of Bardet-Biedl syndrome. Loss of vision occurs as the light-sensing tissue at the back of the eye the retina gradually deteriorates. Problems with night vision become apparent by mid-childhood, followed by blind spots that develop in the side peripheral vision.

Over time, these blind spots enlarge and merge to produce tunnel vision. Most people with Bardet-Biedl syndrome also develop blurred central vision poor visual acuity and become legally blind by adolescence or early adulthood. Obesity is another characteristic feature of Bardet-Biedl syndrome. Abnormal weight gain typically begins in early childhood and continues to be an issue throughout life.

Complications of obesity can include type 2 diabetes , high blood pressure hypertension , and abnormally high cholesterol levels hypercholesterolemia. Other major signs and symptoms of Bardet-Biedl syndrome include the presence of extra fingers or toes polydactyly , intellectual disability or learning problems, and abnormalities of the genitalia. Most affected males produce reduced amounts of sex hormones hypogonadism , and they are usually unable to father biological children infertile.

Many people with Bardet-Biedl syndrome also have kidney abnormalities, which can be serious or life-threatening. Additional features of Bardet-Biedl syndrome can include impaired speech, delayed development of motor skills such as standing and walking, behavioral problems such as emotional immaturity and inappropriate outbursts, and clumsiness or poor coordination.

Distinctive facial features, dental abnormalities, unusually short or fused fingers or toes, and a partial or complete loss of the sense of smell anosmia have also been reported in some people with Bardet-Biedl syndrome.

Additionally, this condition can affect the heart, liver, and digestive system. Frequency In most of North America and Europe, Bardet-Biedl syndrome has a prevalence of 1 in , to 1 in , newborns.

The condition is more common on the island of Newfoundland off the east coast of Canada , where it affects an estimated 1 in 17, newborns. It also occurs more frequently in the Bedouin population of Kuwait, affecting about 1 in 13, newborns.

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Genetics[ edit ] LMS is inherited in an autosomal recessive manner. The parents of an individual with an autosomal recessive disorder both carry one copy of the defective gene, but usually do not experience any signs or symptoms of the disorder. Diagnosis[ edit ] The syndrome was originally thought to have five cardinal features and recently a sixth was added , on the basis of which a diagnostic criteria was developed: 4 primary features or 3 primary features and 2 secondary features must be present. The primary features are: 1. Polydactyly 2. Rod-cone dystrophy 3.

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