Distal arthrogryposis type 2B also known as Sheldon-Hall syndrome, is a rare genetic disorder that presents at birth. Symptoms include joint deformities especially in the hands and feet, a triangular face, down slanting eyes, small mouth, and a high arch to the roof of the mouth. Other common features include attached earlobes, webbed neck, and short stature. The overall life expectancy and learning abilities are not usually affected in this condition.
The common cause of this condition is a change (mutation) in the MYH3, TNNI2, TNNT3, or TPM2 genes. Distal arthrogryposis type 2B is inherited in an autosomal dominant manner, which means only one mutation is needed in order to have this condition. An affected person has a 50% chance of passing this condition on to their children. This condition is diagnosed by physical exam and X-ray findings. There is no cure for distal arthrogryposis type 2B but treatments such as occupational and physical therapy, and/or surgery can help with symptoms. If your child has been diagnosed with distal arthrogryposis type 2B, talk to your doctor about current treatment options.
Description Last Updated: Feb 08, 2018