Lethal Kniest-like dysplasia is a rare form of skeletal dysplasia, a type of genetic disorder that affects the development of bones and cartilage. It is characterized by short stature, joint stiffness, and a distinctive facial appearance. It is a severe form of the disorder and is usually fatal in infancy.

The symptoms of Lethal Kniest-like dysplasia include:

-Severely shortened limbs
-Underdeveloped chest
-Flattened face
-Enlarged head
-Narrowed airways
-Cleft palate
-Hearing loss
-Vision problems
-Heart defects
-Lung problems
-Gastrointestinal issues
-Delayed development

Lethal Kniest-like dysplasia is caused by mutations in the COL2A1 gene, which is responsible for producing type II collagen. This gene mutation results in the production of abnormal collagen, which affects the development of bones and other connective tissues.

The treatments for Lethal Kniest-like dysplasia depend on the severity of the condition and the individual's symptoms. Treatment may include physical therapy, orthopedic surgery, and respiratory support. Physical therapy can help improve muscle strength and range of motion. Orthopedic surgery may be necessary to correct skeletal deformities. Respiratory support may be needed to help with breathing difficulties. In some cases, a tracheostomy may be necessary.

1. Autosomal recessive inheritance
2. Mutations in the COL2A1 gene
3. Maternal advanced age
4. Consanguinity
5. Family history of Lethal Kniest-like dysplasia

There is no cure for Lethal Kniest-like dysplasia. However, there are medications that can help manage the symptoms. These include medications to help with breathing, such as bronchodilators and corticosteroids, as well as medications to help with pain and inflammation. Physical therapy and occupational therapy can also help with mobility and other issues.