Lendorff Syndrome

Lehndorff syndrome (LDS) is a rare genetic disorder characterized by an abnormal structure of chromosome 15. It was first described in 1963 by German pediatrician Hans Lehndorff.

LDS begins in early childhood and is characterized by multiple congenital anomalies, including mental retardation, vision, hearing, speech, and motor coordination disorders. In some cases, heart, kidney and liver defects may also be observed.

The genetic basis of LDS is still not fully understood. However, it is known to be associated with a mutation in the LARS2 gene on chromosome 15, which encodes a lamin A-linked domain-containing protein. This mutation leads to disruption of chromatin assembly and improper functioning of genes, which can lead to abnormal protein expression and impaired development of organs and systems.

Treatment for LDS depends on the severity of symptoms and includes specialized medical care, psychological support and rehabilitation. However, there are still no effective treatments that could completely eliminate the symptoms of the disease.

Although LDS is a rare disease, it should be known to health care providers and parents so they can recognize the symptoms early and seek help.

Lehndorff syndrome is a hereditary disease that occurs due to a mutation in a gene that is responsible for the correct synthesis of proteins necessary for bone growth. This syndrome is associated with various abnormalities of bone and cartilage tissue development, as well as a high risk of developing rickets and osteoporosis in the future.

Symptoms of Lehndorff syndrome may appear in the first days of a child's life, when he begins to grow faster than usual. The child develops pain in the joints, bones and spine, he becomes irritable and restless. If left untreated, the child may develop rickets, which can lead to serious complications such as bone deformation, weakened muscles, and even disability.

Treatment of Lendorff syndrome primarily consists of proper nutrition, which should contain sufficient amounts of calcium and vitamin D. The child is also prescribed calcium supplements and vitamin D-containing products. In addition, it is recommended to regularly engage in physical therapy to strengthen the child's muscles and bones.

However, despite all measures, Lendorff syndrome can have serious consequences for the child’s health and significantly reduce his quality of life in the future. Therefore, it is very important to identify the disease at an early stage and begin timely treatment.