Síndrome de cornelia de lange

Abstract

Cornelia de Lange Syndrome is a clinically heterogeneous dominant disorder characterized by distinctive features including facial dysmorphia, limb malformations and growth and cognitive impairment. Prevalence estimates range from 1:62.000 to 1:45.000 livebirths. Three causative genes are currently known: NIPBL, SMC1A and SMC3, which codify structural or regulatory proteins from the Cohesin Complex. Although the pathogenic bases of the syndrome remain unclear, it has been hypothesized that it is related to anomalies in gene expression regulation and/or chromosome cohesion. Clinically, three phenotypes can be distinguished: severe, moderate and mild. The severe one has been only reported in patients carrying mutations in NIPBL. Gastroesophageal reflux is a common medical problem in these patients, who may develop unexplained behavioural changes and may need surgical repair. Mental retardation is almost a constant feature of variable degree and the more severe cases are associated with mutations in NIPBL as well.