Hirschsprung disease with limb anomalies
Thursday 1 May 2008
Several rare syndromes with HSCR and distal limb anomalies (polydactyly or hypoplasia) have been reported.
(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.