epidemiology
Last reviewed 01/2018
Radial dysplasia or radial club hand has an incidence of around 1 in 55,000 live births. Approximately 80% of cases are sporadic and 20% are hereditary. Most of the latter group are associated with syndromes, most frequently:
- Fanconi's anaemia
- Holt-Oram Syndrome
- thrombocytopaenia-absent radius (TAR) Syndrome
- VATER association
- VACTERLS association
Just over half of all cases show bilateral features, but these may differ in severity between the two sides. Males are more often affected than females and there is a tendency for the right side to be affected more frequently.
If there is a radial anomaly, there is always a thumb anomaly except in the case of TAR Syndrome, but only half of all cases of thumb hypoplasia are associated with a dysplastic radius. When present, a complete absence of the radius is the most frequent finding.