Hand And Foot Deformity With Flat Facies

Emery and Nelson (1970) reported a mother and daughter with the same disorder. The mother's condition was known by history only. Nonprogressive deformities of the hands were first noted in childhood. The face was flat. Both were about 5 feet tall. The daughter was mentally retarded but the mother was considered unusually intelligent. The daughter was 'floppy' as a neonate. The first three metacarpophalangeal joints had flexion contractures and the thumbs showed contractures in extension at the interphalangeal joints. All the toes were clawed.