Cleft hand absent tibia

Overview

Tibial hemimelia-split hand/foot syndrome (TH-SHFM) is a rare constellation of multiple congenital malformations which includes Ectrodactyly (Lobster claw deformity or Cleft hand/foot) with a wide range of phenotypes of absent tibia/tibial hemimelia or long bone deficiency(1,2). We describe a proposita with these characteristic anomalies in absence of family history of malformations. This was associated with sacral agenesis, anorectal atresia, hemi-vertebra and ventricular septal defect, hither to undescribed.