Dr. Suraj Mistry, Dr. Singh S V, Dr. Manisha Nada, Dr. Sumeet Khanduja
A 3 year old male child was referred to our opd from department of paediatrics for evaluation of heterochromia iridis. Child was also suffering from sensorineural hearing loss. Increased intercanthal distance (dystopia canthorum) was noted. Pigmentary changes in hair and skin were present. Diagnosis of Waardenberg syndrome was made based on clinical findings. It is important to diagnose and report these children as they are at higher risk of developing neural tube defects, cleft lip and palate and Hirschsprung disease. PAX6 gene is associated with development of this syndrome.