Autosomal recessive distal osteolysis syndrome (ARDOS) is a rare genetic disorder characterized by progressive destruction of the bones in the hands and feet. It is caused by mutations in the WNT1 gene, which is responsible for the production of a protein involved in bone formation. Symptoms of ARDOS include pain, swelling, and deformity of the hands and feet, as well as difficulty walking. Treatment typically involves physical therapy, medications, and surgery.

The symptoms of Autosomal recessive distal osteolysis syndrome include:

-Painful swelling of the hands and feet
-Bone fragility and fractures
-Deformities of the hands and feet
-Short stature
-Joint contractures
-Hearing loss
-Cataracts
-Delayed motor development
-Intellectual disability
-Seizures
-Abnormalities of the teeth and gums
-Abnormalities of the nails
-Abnormalities of the skin

Autosomal recessive distal osteolysis syndrome is caused by mutations in the WNT1 gene. This gene provides instructions for making a protein that is involved in the development of bones and other tissues. Mutations in this gene lead to the production of an abnormal version of the protein, which disrupts the normal development of bones and other tissues.

Currently, there is no known cure for Autosomal recessive distal osteolysis syndrome. Treatment focuses on managing the symptoms and preventing further complications. This may include physical therapy, occupational therapy, and orthopedic surgery to correct any joint deformities. Other treatments may include medications to reduce pain and inflammation, braces or splints to support weakened joints, and assistive devices such as walkers or wheelchairs.

1. Having a family history of Autosomal recessive distal osteolysis syndrome.
2. Being of Ashkenazi Jewish descent.
3. Having a mutation in the WNT1 gene.
4. Being exposed to certain environmental factors, such as certain medications or toxins.
5. Having a weakened immune system.

Unfortunately, there is no cure for Autosomal recessive distal osteolysis syndrome. Treatment focuses on managing the symptoms and preventing complications. Medications such as nonsteroidal anti-inflammatory drugs (NSAIDs) and bisphosphonates may be used to reduce pain and inflammation. Physical therapy and orthopedic devices may also be used to help improve mobility and reduce pain.