Clinical features

The clinical features of radial club hand are appreciated usually at birth. There are a spectrum of anomalies, but typically, the hand is flexed and supinated at the wrist. There is palmar subluxation and it is radially displaced. There may be impaired movement in the digits that is progressively worse towards the radial side of the hand. The forearm may be short and the elbow is stiff. The humerus may be shorter. Particularly for type 4 anomalies in the Bayne and Klug Classification, there may be thumb hypoplasia.

The clinical deformity is a direct result of inadequate support for the carpus from the distal radius. This is exacerbated by muscular imbalance: residual radial extensors become hypoplastic and shortened and the extrinsic finger flexors run radial to the midline of the forearm. Consequently, any finger flexion increases the tendency to radial deviation.

The range of abnormalities can be subdivided into those affecting the skeleton and those affecting the soft tissues. As a general rule, the greater the deficiency of radial bone, the greater is the abnormality of the soft tissues.

In a presenting for the first time with radial dysplasia, a thorough screen must be undertaken for other other syndromic systemic anomalies. These include:

• haematological abnormalities: Fanconi's anaemia, TAR syndrome
• cardiac septal defects: Holt-Oram Syndrome
• vertebral anomalies: VATER/VACTERL Syndrome, Klippel-Feil
• undescended scapula: Sprengel deformity
• imperforate anus: VATER/VACTERL
• respiratory and feeding problems: tracheo-oesophageal fistula, oesophageal atresia of VATER/VACTERL
• impaired renal function: VATER/VACTERL