Pediatric Holt-Oram Syndrome Differential Diagnoses

Updated: Sep 06, 2019
  • Author: Poothirikovil Venugopalan, MBBS, MD, FRCPCH; Chief Editor: Syamasundar Rao Patnana, MD  more...
  • Print

Diagnostic Considerations

The following syndromes do not include atrial septal defect (ASD) and do not map to band 12q2:

  • Heart-hand syndrome type II (Tobatznik syndrome)

  • Heart-hand syndrome type III (OMIM 140450)

Other problems to be considered include the following:

  • Okihiro/Duane-radial ray syndrome (DRRS)

  • Coloboma, heart disease, atresia, choanae, retarded growth and retarded development and/or CNS anomalies, genital hypoplasia, and ear anomalies and/or deafness (CHARGE) association

  • Fanconi anemia

  • Thalidomide embryopathy

  • Vertebral defects, imperforate anus, tracheoesophageal fistula, radial and renal dysplasia (VATER) and/or vertebral, anal, cardiac, tracheal, esophageal, renal, limb (VACTERL) association

Differential Diagnoses