Townes-Brocks and Okihiro Syndrome

Hand abnormality in Townes-Brocks syndrome

Townes-Brocks syndrome is a rare genetic disease caused by a mutation of the SALL1 gene, resulting in malformations of the fingers and/or toes. However, also abnormalities of the kidneys and heart have been reported. Some children with this genetic disorder also show learning difficulties, and in severe cases mental retardation.

Malformation in the Okihiro/Duane-radial ray syndrome

The Okihiro syndrome, also known as Duane-radial ray syndrome, is a rare disorder caused by mutation the SALL4 gene. Besides bone abnormalities in hands and feet, such as an extra or absent thumb, this condition is often accompanied by the so-called Duane anomaly, in which the proper movement of the eye is impaired resulting in a limitation of out- or inward eye movement.