acromesomelic dysplasia 2A

Acromesomelic dysplasia 2A is a rare genetic condition that affects bone development. This condition mainly causes severe dwarfism at birth with abnormalities mainly found in the limbs. The long bones may be very short and deformed, and there can be issues with the bones in the hands and feet where some may be fused or missing. In addition, people with this condition may have unusual shaped fingers such as ball-shaped fingers and, in some cases, extra fingers or missing joints. Despite these limb differences, facial features and intelligence remain normal, which helps to differentiate this condition from other forms of dwarfism.

Common symptoms of acromesomelic dysplasia 2A include severe dwarfism at birth, significant shortening and deformity of the long bones of the arms and legs, and abnormalities in the hand and foot bones. This may include fusion or absence of certain carpal (wrist) and tarsal (ankle) bones, along with ball-shaped fingers. Occasionally, extra digits (polydactyly) as well as differences in joint formation are observed.

Acromesomelic dysplasia 2A is caused by genetic changes inherited in an autosomal recessive pattern. This means that a person needs to inherit two copies of the abnormal gene to develop the condition. The condition is linked to changes in the GDF5 gene, which plays a key role in the formation of bone and cartilage.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about current research and future directions is currently limited for this condition.