Sheldon-Hall syndrome

Sheldon-Hall syndrome (SHS), also known as distal arthrogryposis type 2B (DA2B), is a rare inherited connective tissue and musculoskeletal disorder characterized by multiple joint contractures, particularly affecting the hands and feet. It is considered the most common form of distal arthrogryposis. The condition is present at birth and is characterized by a distinctive combination of features including clenched fists with overlapping fingers (camptodactyly and ulnar deviation), talipes equinovarus (clubfoot), and a characteristic facial appearance. Facial features often include a triangular face, prominent nasolabial folds, a small mouth with downturned corners, and a high-arched palate. Affected individuals may also have short stature and limited range of motion in the shoulders and hips. Sheldon-Hall syndrome is caused by mutations in genes encoding components of the contractile apparatus of skeletal muscle, including TNNI2 (encoding troponin I), TNNT3 (encoding troponin T), TPM2 (encoding tropomyosin 2), and MYH3 (encoding embryonic myosin heavy chain). These genetic defects impair normal fetal movement in utero, leading to the joint contractures observed at birth. Intelligence is typically normal, and the condition is non-progressive. Treatment is supportive and focused on improving joint mobility and function. Physical therapy and occupational therapy are cornerstones of management, often initiated early in life. Orthopedic interventions, including serial casting, splinting, and in some cases surgical correction, may be necessary to address clubfoot and hand contractures. With appropriate management, many individuals with Sheldon-Hall syndrome achieve good functional outcomes and lead independent lives. Genetic counseling is recommended for affected families given the autosomal dominant inheritance pattern.

Common questions about Sheldon-Hall syndrome