Moore-Federman syndrome

Moore-Federman syndrome, also known as Moore-Federman dwarfism or stiff skin syndrome (Moore-Federman type), is an extremely rare genetic connective tissue disorder characterized by short stature, joint stiffness, and skin changes. The condition primarily affects the musculoskeletal system and the skin. Key clinical features include dwarfism (short stature), widespread joint contractures leading to limited mobility, and thickened, taut skin that is particularly notable over the trunk and extremities. Affected individuals may also exhibit a broad and short neck, a barrel-shaped chest, and skeletal anomalies. Additional features that have been described in affected individuals include mild facial dysmorphism, limitation of joint movement (especially of the fingers, elbows, and knees), and early-onset degenerative joint disease. The stiff, indurated skin resembles scleroderma but is not associated with autoimmune or inflammatory markers. Some patients may develop pulmonary restriction due to chest wall stiffness. Moore-Federman syndrome has been linked to mutations in the FBN1 gene, which encodes fibrillin-1, a key structural protein in connective tissue. This places it within the spectrum of fibrillinopathies, which also includes Marfan syndrome and other stiff skin syndromes. There is currently no cure for Moore-Federman syndrome. Treatment is supportive and symptomatic, focusing on physical therapy to maintain joint mobility, orthopedic management of skeletal complications, and monitoring of respiratory function. Genetic counseling is recommended for affected families.

Common questions about Moore-Federman syndrome