Emery-Nelson Syndrome

Emery and Nelson (Emery and Nelson 1970) documented a case of a mother and daughter who both exhibited the same disorder. The mother’s condition was only known through historical records. Hand deformities that do not progress were initially observed during childhood. The visage exhibited a lack of prominent contours. Both individuals had a height of approximately 5 feet. The daughter was mentally impaired, yet the mother was regarded unusually brilliant. The daughter was “floppy” as a neonate. The first three metacarpophalangeal joints had flexion contractures, while the thumbs showed contractures in extension at the interphalangeal joints. All the toes were clawed.