Hirschsprung disease with limb anomalies

Several rare syndromes with HSCR and distal limb anomalies (polydactyly or hypoplasia) have been reported.

These are:

 (1) HSCR with polydactyly, unilateral renal agenesis, hypertelorism and congenital deafness (MIM.235740);
 (2) HSCR, postaxial polydactyly and ventricular septal defects (MIM.235750);
 (3) HSCR, hypoplasia of the distal phalanges and nails and mild dysmorphic features (MIM.235760);
 (4) HSCR with preaxial polydactyly, heart defect and laryngeal anomalies (MIM.604211);
 (5) HSCR with brachydactyly type D (MIM.306980);
 (6) HSCR with brachydactyly, macrocephaly and vertebrae anomalies;
 (7) BRESHEK syndrome;
 (8) Werner mesomelic dysplasia.