What is Larsen's syndrome?

Syndrome

Larsen (LS) is one of the most unusual genetic disorders that affects only one in 100,000 individuals. It is also innate, which means that the disorder is present since birth. Dr. Joseph Larsen, orthopedic surgeon, for the first time documented the occurrence of syndrome at the age of 50. He observed more than five patients carrying the same unusual properties in their joints, limbs and face structure. Both can result in hypermobility, unusual ability to excessively extend and bend the joints. Children often have limp muscles, which make them look like a rag doll. Another common feature is brachycephaly or "flat head syndrome". People with this symptom have a wider forehead, widely separated eyes and flattened nasal bridge. In some cases, the patient may have abnormal curvature of the spine, respiratory problems and mental retardation. Some patients with mild to medium cases of Larsen syndrome do not have all symptoms, but usually have considerable features in the face and limbs. HardlyHowever, it can lead to the premature death of a child.

The

Larsen syndrome is an autosomal dominant congenital disorder, which means that only one defective copy of the gene is inherited. Only one parent with a mutated gene is sufficient to hand over the same disorder to their child. Yet there are cases that reveal a disorder, they may also be in a recessive form in which the offspring requires two affected genes to obtain Larsen syndrome. More accurate cases were even reported by untouched parents who gave birth to disabled children. The offspring of the affected parent has a 50 percent chance to inherit the same as the same gene.

Studies show that Larsen's syndrome is the result of a mutated protein called Filamin B (FNLB) located in human trips 3. FNLB is partly responsible for the correct development of the skeleton. It has not yet been found that no other genes affect a person with a disorder.

Larsen's syndrome cannot be cured, but its symptoms can be treated and stoppede monitor. Physical therapy can alleviate joint problems, limbs and spine, while surgery can reconstruct the fleet of the floor and solve heart problems. Breathing instruments and supplementary oxygen can help the patient with respiratory problems. Disabled patients may have normal life expectancy with constant care and treatment.