Laurence Moon Bardet Biedl Syndrome (LMBBS) is a rare genetic disorder that is characterized by a variety of symptoms affecting multiple parts of the body. It is named after the physicians who first described the syndrome in the medical literature: Lawrence and Moon in 1866 and Bardet and Biedl in 1920.
LMBBS is an autosomal recessive disorder, meaning that it is inherited when a child receives two copies of the mutated gene, one from each parent, who are typically unaffected carriers. The genes associated with LMBBS are mainly involved in the function and development of cilia, which are tiny, hair-like structures that are present on the surface of many cells in the body. These cilia play a crucial role in various physiological processes, such as sensory perception, cell signaling, and organ development.
Individuals with LMBBS may present with a wide range of symptoms, including progressive vision loss or blindness, intellectual disability, learning and behavioral problems, obesity, developmental delays, kidney abnormalities, genital malformations, and extra fingers or toes. Additionally, some affected individuals may experience endocrine abnormalities, such as diabetes mellitus or hormonal imbalances. Symptoms and their severity can vary widely among individuals with LMBBS, even within the same family.
The diagnosis of LMBBS typically involves a comprehensive clinical evaluation, including a detailed medical history, physical examination, and various specialized tests such as genetic testing and imaging studies. Although there is no cure for LMBBS, treatment focuses on managing individual symptoms and complications, including regular monitoring of vision, kidney function, obesity, and other associated issues. Supportive care may include vision aids, educational interventions, and a multidisciplinary approach involving various healthcare professionals to optimize overall health and quality of life for individuals
