About Astley-Kendall dysplasia

What is Astley-Kendall dysplasia?

Astley-Kendall dysplasia is a rare genetic disorder characterized by skeletal abnormalities, including short stature, joint contractures, and scoliosis. It is caused by a mutation in the gene encoding the protein filamin A. Symptoms usually appear in infancy or early childhood and can include delayed motor development, hearing loss, and intellectual disability. Treatment is supportive and may include physical therapy, occupational therapy, and orthopedic surgery.

What are the symptoms of Astley-Kendall dysplasia?

The symptoms of Astley-Kendall dysplasia include short stature, joint laxity, scoliosis, hip dysplasia, and facial features such as a broad forehead, deep-set eyes, and a small chin. Other features may include a high-arched palate, a cleft lip or palate, and hearing loss.

What are the causes of Astley-Kendall dysplasia?

Astley-Kendall dysplasia is a rare genetic disorder caused by mutations in the WNT3 gene. This gene is responsible for producing a protein that helps regulate the development of bones and cartilage. Mutations in this gene can lead to abnormal bone and cartilage development, resulting in the symptoms of Astley-Kendall dysplasia.

What are the treatments for Astley-Kendall dysplasia?

At this time, there is no known cure for Astley-Kendall dysplasia. Treatment focuses on managing the symptoms and complications associated with the condition. This may include physical therapy, occupational therapy, and orthopedic surgery to correct skeletal deformities. Other treatments may include medications to reduce pain and inflammation, and assistive devices such as braces or wheelchairs to help with mobility.

What are the risk factors for Astley-Kendall dysplasia?

The exact cause of Astley-Kendall dysplasia is unknown, but it is believed to be an inherited disorder. Risk factors for this condition include having a family history of the disorder, being of Caucasian descent, and being female.

Is there a cure/medications for Astley-Kendall dysplasia?

At this time, there is no cure for Astley-Kendall dysplasia. Treatment focuses on managing the symptoms and complications associated with the condition. This may include physical therapy, occupational therapy, orthopedic surgery, and medications to help manage pain and other symptoms.