Radial clubhand is a rare congenital birth disorder characterized by an absent thumb and a perpendicular relationship between wrist and forearm.
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Epidemiology
Rare. Noted in around 1: 55,000 births. Bilateral up to 72% of cases.
Clinical presentation
Patients present with a perpendicular relationship of the wrist to the forearm. They often have an absent or hypoplastic thumb.
Pathology
No known genetic cause has been identified yet. Possible causation is suspected in fibroblast growth factor function and sonic hedgehog gene. Associated with thrombocytopenia-absent radius (TAR) syndrome, Fanconi anemia, VATER and VACTERL syndrome.
Radiographic features
X-ray
The entire radius bone and often the thumb is absent on X-ray.
Treatment and prognosis
Initial treatment is passive stretching, splinting and manipulation and should commence soon after birth.
Surgical procedures such as hand centralisation can be performed to improve functional outcomes. Operative interventions are typically performed at 6-12 months of age.