Laurence-Moon-Bardet-Biedl Syndrome (LMBBS)

Laurence-Moon-Bardet-Biedl Syndrome (LMBBS)

Article
Brain & Nerve
Eye & Vision
+8
Contributed byKrish Tangella MD, MBAJul 28, 2021

The topic Laurence-Moon-Bardet-Biedl Syndrome (LMBBS) you are seeking is a synonym, or alternative name, or is closely related to the medical condition Bardet-Biedl Syndrome.

Quick Summary:

  • Bardet-Biedl Syndrome (BBS) is an uncommon genetic disorder that affects multiple parts of the human body. Inhabitants of Canadian Newfoundland and those belonging to the Bedouin community of Kuwait seem to have a higher risk for developing the disorder
  • Bardet-Biedl Syndrome can manifest during infancy, with symptoms developing or progressing as the child grows older. Since BBS has a genetic cause, the single major risk factor for developing this condition is having a family history of the same
  • The majority of individuals with Bardet-Biedl Syndrome inherit the disorder in an autosomal recessive manner. The condition is caused by mutations in at least 12 genes (known as the BBS genes)
  • BBS genes code for proteins of cellular structures called cilia, which are the projections on a cell surface involved in transmitting signals as well as cellular movement and migration. Mutations in the BBS genes give rise to abnormal cilia. As a result, multiple structures and functions of the body are affected
  • Bardet-Biedl Syndrome is characterized by a spectrum of signs and symptoms. Since many parts of the body may be involved, the type and severity of symptoms may differ in each affected individual. Vision defects are the most common symptoms, along with polydactyly (extra finger or toe), abnormal body fat distribution, small genitals in males, and learning disabilities
  • As a consequence of the syndrome being multisystem affecting, many complications are known to arise including blindness, high blood pressure, type-2 diabetes, kidney malfunction, and infertility
  • A diagnosis of Bardet-Biedl Syndrome may be made through a number of tests, including a physical examination, evaluation of family medical history, assessment of symptoms, and genetic testing
  • Treatment options for Bardet-Biedl Syndrome are generally tailored towards addressing the symptoms. Individuals with significant symptoms related to the eye, kidney, ear, and the gastrointestinal system may be referred to appropriate healthcare professionals
  • The prognosis for Bardet-Biedl Syndrome is typically guarded, particularly if renal failure occurs as a complication. But, it also depends upon the severity of the signs and symptoms

Please find comprehensive information on Bardet-Biedl Syndrome regarding definition, distribution, risk factors, causes, signs & symptoms, diagnosis, complications, treatment, prevention, prognosis, and additional useful information HERE.

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Krish Tangella MD, MBA

Pathology, Medical Editorial Board, DoveMed Team

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