Tonoki Syndrome

Clinical Features

Tonoki et al. (1990) reported sibs with a purportedly new syndrome of dwarfism, brachydactyly, nail dysplasia, and mental retardation. The brachydactyly was considered to be type B (short middle phalanges with short or absent terminal phalanges of fingers and toes).

Sorge et al. (1998) described a 13.5-year-old boy with microcephaly, short stature, type B brachydactyly, nail dysplasia, skeletal anomalies, and mental retardation. His mother had brachydactyly of thumbs and a similar physiognomy without mental retardation.

Inheritance

Sorge et al. (1998) suggested that Tonoki syndrome is a distinct autosomal dominant or X-linked clinical entity.