FP808 : A rare case of sotos syndrome!

Dr.Rakshitha O P, R21473

Introduction:Sotos syndrome is a genetic disorder caused by mutations and deletions of the NSD1 gene located at chromosome 5q35 coding for histone methyltransferase.Most of the cases are sporadic,although autosomal dominant inheritance has been described.They mainly present with craniofacial abnormalities,non-progressive neurological disorder,delayed milestones and intellectual disability.Associated features include neonatal jaundice,scoliosis,cardiac,ocular and genitourinary anomalies. Case report:A one year 4 months old baby presented to us with jerky movements in both eye.On examination,there was macrocephaly,hypertelorism,megalocornea, scleral thinning and nystagmus.Patient also presented with developmental delay,abnormal facial features and polydactyly. Purpose:This is a rare disease which requires early intervention by a coordinated team of specialists to ensure the global development of such affected individuals and help them reach their maximum potential.