Beals syndrome
- Autosomal dominant disorder of the connective tissue caused by heterozygous pathogenic variants of FBN2 (fibrillin 2)
- Patients with congenital contractural arachnodactyly present with a marfanoid physique (eg, tall and slender body in which arm span exceeds height; arachnodactyly; progressive kyphoscoliosis) and cardiac valvular abnormalities; mild aortic dilation is rarely present
- Differentiate from Marfan syndrome by presence of diffuse severe joint contractures (eg, knees, ankles, hips, digits) that manifest at birth, muscular hypoplasia, crumpled-ear deformity, and early-onset progressive kyphosis and scoliosis; eyes are not affected, and vascular dissections are rare
- Diagnosis is confirmed by molecular analysis revealing a known pathologic FBN2 mutation associated with disease
