What is the prevalence of Kniest Dysplasia?

How many people does Kniest Dysplasia affect? Does it have the same prevalence in men and women? And in the different countries?

Kniest Dysplasia is a rare genetic disorder characterized by skeletal abnormalities. It is estimated to affect approximately 1 in every 100,000 to 200,000 individuals worldwide. This condition is caused by mutations in the COL2A1 gene, which is responsible for producing a protein essential for the development of cartilage and other connective tissues. Kniest Dysplasia is inherited in an autosomal dominant manner, meaning that a person with the condition has a 50% chance of passing it on to their children. Diagnosis is typically made through clinical evaluation, genetic testing, and imaging studies. Treatment focuses on managing symptoms and providing supportive care.

Kniest Dysplasia Prevalence:

Kniest Dysplasia is a rare genetic disorder that affects the skeletal system. It is estimated to occur in approximately 1 in every 100,000 to 200,000 live births worldwide. This prevalence may vary across different populations and ethnicities.

The condition is characterized by abnormal bone development, particularly in the long bones of the body, leading to short stature and various skeletal abnormalities. Individuals with Kniest Dysplasia often have a distinct facial appearance, including a flat midface, a small nose, and a cleft palate.

Due to its rarity, Kniest Dysplasia is considered an orphan disease. It is caused by mutations in the COL2A1 gene, which encodes for type II collagen, an essential protein for the formation of connective tissues in the body.

Early diagnosis and management of Kniest Dysplasia are crucial to address potential complications and provide appropriate support and treatment. Genetic counseling is recommended for affected individuals and their families to understand the inheritance pattern and potential risks.

Diseasemaps

s a rare form of dwarfism caused by a mutation in the COL2A1 gene on chromosome 12.[1] The COL2A1 gene is responsible for producing type II collagen. The mutation of COL2A1 gene leads to abnormal skeletal growth and problems with hearing and vision. What characterizes kniest dysplasia from other type II Osteochondrodysplasia is the level of severity and the dumb-bell shape of shortened long tubular bones.[2] This condition was first diagnosed by Dr. Wilhelm Kniest in 1952. Dr. Kniest noticed that his 50 year old patient was having difficulties with restricted joint mobility. The patient had a short stature and was also suffering from blindness. Upon analysis of the patient's DNA, Dr. Kniest discovered that a mutation had occurred at a splice site of the COL2A1 gene. This condition is very rare and occurs less than 1 in 1,000,000 people. Males and females have equal chances of having this condition.[3] Currently, there is no cure for kniest dysplasia. Alternative names for Kniest Dysplasia can include Kniest Syndrome, Swiss Cheese Cartilage Syndrome, Kniest Chondrodystrophy, or Metatrophic Dwarfism Type II.

Posted Oct 31, 2018 by Shere 2500