Classic Cornelia de Lange syndrome with variant of unknown significance detected in NIPBL gene mutation: a case report

Abstract Background Cornelia de Lange syndrome is a relatively uncommon disorder associated with multiple congenital anomalies/mental retardation of unknown etiology its incidence varying from 1:10,000 to 1:50,000 live births in different population groups without any known racial predilections. Main clinical features this consist distinctive dysmorphic facial appearance, growth retardation, developmental delay, mental hirsutism, and skeletal formation anomaly. Case presentation This case presents variation significance the NIPBL gene-exon 39, chr5:37048649T>A c.6635T>A (p.Val2212Glu) phenotype syndrome. Our patient belonged South Indian origin synophrys, micrognathia, long smooth philtrum, clinodactyly bilateral simian crease. Conclusion rare but well-characterized disorder, which systems body are affected. It important that treating physician ensures coordination diversiform aspects care both childhood adulthood. Proper timely diagnosis using next generation sequencing helps management possibility prenatal diagnosis.