Spectrum of congenital abnormalities of hand and forearm, from hypoplastic or absent thumb, to short arm with deviated, clubbed hand.

Commonly part of a congenital syndrome, so refer to a clinical geneticist.

• VACTERL Association,
• VATER syndrome,
• Holt-Oram syndrome ( association of cardiopulmonary and limb defects),
• TAR syndrome (thrombocytopenia-absent radius),
• Fanconi anaemia.  

Investigations

• Spine x-rays,
• renal ultrasound,
• complete blood count,
• echocardiography