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Hirschsprung disease with limb anomalies

Thursday 1 May 2008

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.