A distinct autosomal recessive disorder of limb development with preaxial brachydactyly, phalangeal duplication, symphalangism and hyperphalangism.

We describe four children from two consanguineous families with distinctive hand and foot anomalies including preaxial brachydactyly, together with phalangeal duplication, symphalangism and hyperphalangism of fingers I-III. These anomalies are remarkably similar to those described in a previous case report. Additional features were noted both in this case and, to variable degrees, in the four children reported here.