Cornelia de Lange syndrome: A novel case report

Cornelia de Lange syndrome (CdLS) is a congenital disorder marked by distinctive facial features, severe growth restriction, cognitive disability, global developmental delay and anomalies involving multiple body organs. Majority cases of CdLS are caused due to sporadic mutations in the NIPBL, SMC1A, SMC3, RAD21 or HDAC8 genes, which form/regulate a multiprotein complex called cohesin. Cohesin is required for the separation of sister chromatids during cell division. Here, we present a rare case of a 3 years 6 months depicting classical features of CdLS with missense mutation c.932c>T in the HDAC8 gene with mild spasticity in all four limbs and speech delay.