Odontotrichoungual-Digital-Palmar Syndrome

Clinical Features

Mendoza and Valiente (1997) described an apparently 'new' autosomal dominant ectodermal dysplasia syndrome, which they designated odontotrichoungual-digital-palmar syndrome. In 2 brothers, their mother, and 18 other relatives in 5 generations, the authors observed natal teeth, trichodystrophy, prominent interdigital folds, simian-like hands with transverse palmar creases, and ungual digital dystrophy. Secondary dentition showed irregular eruption. There was brachydactyly and short first metacarpal and metatarsal bones with hypoplasia of the distal phalanges of the toes. There was at least one instance of male-to-male transmission.