Lawrence-Biedl Syndrome

**Laurence-Biedl Syndrome** is a rare hereditary disease associated with genetic defects in the functioning of certain chromosomes. This disease is quite rare, its frequency is about 5 cases per million newborns. There is great variability in the clinical picture and the rate of development of the syndrome in patients.

**Symptoms of Lorenz-Bilday syndrome:** - Macrostomia (increase in jaw size); - Gynecomastia (due to fat accumulation, an increase in the size of the mammary glands in men); - Anomalies of physical development; - Kyphosis (curvatures of the spine); - Hypertrichosis (uncontrolled hair growth throughout the body); - Dental dysplasia; - Anemia; - Impaired coordination of movements; - Vision (decreased visual acuity, blurred objects, glare, double vision); - Complaints of fatigue and weakness;

The disease got its name from the names of the two scientists who first described this syndrome, in honor of the German ophthalmologist Johannes Zacharias Laurence and the Czech doctor Anton Biedl. However, Lorenz was not the biological father of the disease. Later studies revealed that this syndrome is caused by a mutation in the LZTR1 gene. Currently, three main forms of the disease are known:

- Classic - the most severe and common form. It is characterized by external manifestations: coarse facial features (large cheekbones, wide nose, drooping eyelid), large belly and arms, increased body weight due to muscle and fatty tissue, constipation, cardiac dysfunction, liver and kidney diseases. Children already in the first year of life experience difficulties with speech and memorizing information, and possible hearing problems; - Signs of neurofibromatosis in the form of moles and freckles: this is one of the forms of skin malformation, indicating an increased tendency of the body to form tumors, especially -

Lawrence-Biedl Syndrome: A rare inherited disorder

Lawrence-Biedl-Bardet syndrome, also known as Laurence-Biedl-Bardet syndrome (LBS), is a rare genetic disorder that affects multiple body systems. This syndrome was named after two doctors - English ophthalmologist John Zachariah Laurence and Czech doctor Antonin Biedl - who made significant contributions to his research.

Lawrence-Biedl syndrome is a hereditary disease transmitted in an autosomal recessive manner. This means that both parents must be carriers of the genetic mutation for a child to inherit the syndrome. The main characteristics of Lawrence-Biedl syndrome are obesity, vision problems, polydactyly, mental retardation and kidney problems.

One of the most common features of Lawrence-Biedl syndrome is obesity, which usually begins in early childhood and continues throughout life. This can lead to a variety of health problems, including diabetes, cardiovascular disease, and an increased risk of other complications.

Vision problems are also a characteristic feature of Lawrence-Biedl syndrome. The child may have incomplete retinal development or glaucoma, which can lead to poor vision or even blindness. Early detection and treatment of these problems is very important to preserve visual function.

Polydactyly, a condition in which a person has an extra finger or toes, may also be a characteristic feature of Lawrence-Biedl syndrome. This can lead to functional limitations and requires surgery to correct.

Mental retardation is another symptom of Lawrence-Biedl syndrome. Children with this syndrome may have varying degrees of mental retardation, which affects their ability to learn and develop self-care skills.

Renal abnormalities may also be present in patients with Lawrence-Biedl syndrome. This may include various kidney abnormalities, chronic kidney failure and other problems that require medical intervention and support.

Treatment of Lawrence-Biedl syndrome is symptomatic and aimed at managing individual aspects of the disease. A team of medical specialists, including ophthalmologists, geneticists, endocrinologists and other specialists, typically work together to provide comprehensive care to patients.

When it comes to managing obesity, it is recommended to maintain a healthy lifestyle that includes a balanced diet and regular physical activity. Drug treatment and surgery to manage obesity may also be considered in some cases.

Vision problems may require glasses, contact lenses, or surgery to correct glaucoma or other retinal problems. Regular visits to the ophthalmologist for monitoring and treatment are very important to maintain visual function.

In cases of polydactyly, surgical removal of additional digits or digits may be necessary to ensure better functionality of the limbs.

Support and early intervention in the learning and development of children with mental retardation are also important aspects of the management of Lawrence-Biedl syndrome. Early intervention, specialized education, and physical and speech therapy can help children reach their potential and improve their quality of life.

Managing kidney problems may require regular monitoring by doctors, monitoring blood pressure, and taking medications to maintain normal kidney function.

In conclusion, Lawrence-Biedl syndrome is a rare inherited disorder that affects various systems of the body. Patients with this syndrome require comprehensive medical support and management of various aspects of the disease. Early detection, early intervention and a multidisciplinary approach to treatment can help improve the prognosis and quality of life for people suffering from Lawrence-Biedl syndrome.