arthrogryposis, distal, type 12

Arthrogryposis, distal, type 12 is an inherited condition primarily affecting the joints of the hands and feet, leading to congenital contractures and limited mobility. Variants in the ADAMTS15 gene are implicated in the disruption of normal musculoskeletal development. The condition typically presents in infancy, with noticeable limb stiffness and joint anomalies. Precise prevalence estimates have not been established, and it is considered rare.

The clinical presentation of arthrogryposis, distal, type 12 centers on a distinct pattern of musculoskeletal findings. Characteristic features include clinodactyly of the 5th finger, congenital finger flexion contractures, absent distal interphalangeal creases, tapered distal phalanges, and hand muscle atrophy, all consistently present. Additional musculoskeletal manifestations such as Achilles tendon contractures, ankle and knee flexion contractures, thoracic kyphosis, and scoliosis are observed in a majority of affected individuals. Some patients also present with craniofacial or related features, including low-set ears, a high palate, palmar hyperhidrosis, strabismus, and hypertelorism, while others may experience sensory changes or urogenital findings like cryptorchidism. Not all individuals experience every feature, and severity varies considerably.

Arthrogryposis, distal, type 12 is caused by genetic variants in the ADAMTS15 gene. Although the detailed role of ADAMTS15 in normal development is still being defined, it is believed to be involved in the processing of the extracellular matrix, which is critical for connective tissue development. The condition is inherited in an autosomal recessive pattern, meaning that an affected individual inherits one altered copy of the gene from each asymptomatic carrier parent. Families are encouraged to seek genetic counseling to better understand the implications for current and future family planning.

Currently, management focuses on supportive care and symptom management, with no specific treatments approved for this condition. A multidisciplinary approach—including input from orthopedic specialists, physical and occupational therapists, and other relevant experts—is essential for ongoing surveillance and intervention. Regular monitoring helps identify potential complications early, and strategies such as physical therapy or surgical interventions may be employed to improve function and mobility. Genetic counseling is also recommended so families can gain insight into the inheritance pattern and discuss appropriate care options.

The outlook for arthrogryposis, distal, type 12 is variable and depends on the severity of joint involvement and the effectiveness of supportive interventions. With current standards of care, many individuals are able to achieve improved functionality and maintain a good quality of life, although the condition may require ongoing management. Outcomes described in medical literature continue to evolve as standards of care improve. Families are encouraged to connect with genetic counselors and specialists to receive tailored guidance and support regarding long-term management.