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.
- Spine x-rays,
- renal ultrasound,
- complete blood count,