Second Metatarsal-Metacarpal Syndrome

Clinical Features

Christian et al. (1975) described a mother and daughter with a syndrome of metacarpal and metatarsal asymmetry, platyspondyly, carpal and tarsal fusions, syndactyly, articular dysplasia, and platyspondyly. The most striking finding was asymmetry in length of the second metacarpals and metatarsals. For example, the daughter had short left second metacarpal and short right second metatarsal, their counterparts on the other side being abnormally long.

Garcia-Cruz et al. (1995) reported a mother and daughter with a similar syndrome characterized by proximal and distal flexion contractures in the phalanges and by brachydactyly, clinodactyly, and ulnar and radial subdislocations of the fingers. Radiologically, the second metacarpal in the daughter was longer than the other metacarpals, with bone-carpal fusion and flexion contractures of the fingers of both hands. Thoracolumbar kyphoscoliosis and malformed vertebrae with dyssegmentation of L2-L3, cuneiform shape of T12 and L1, asymmetry of the pelvic bones, and exostotic lesions in the proximal third of the tibia and the distal third of the femur were also noted. The authors referred to the disorder as Christian spondylodigital syndrome.