Cornelia De Lange Syndrome
Cornelia de Lange Syndrome typically presents with a constellation of distinctive features affecting several different parts of the body. There is a wide degree of variation between individuals with the disorder in the presentation and severity of symptoms; however, the features described below represent a typical presentation (Deardorff, Clark, & Krantz, 2011).
Slow growth during both fetal and post-natal development is a characteristic feature of the disorder. Approximately 90% or more of patients display delayed skeletal maturation, and about 50% were noted to have intrauterine growth retardation (Genetic and Rare Diseases
Information Center, n.d.). Because of this, individuals with Cornelia de Lange syndrome tend to be short in
Slow growth during both fetal and post-natal development is a characteristic feature of the disorder. Approximately 90% or more of patients display delayed skeletal maturation, and about 50% were noted to have intrauterine growth retardation (Genetic and Rare Diseases
Information Center, n.d.). Because of this, individuals with Cornelia de Lange syndrome tend to be short in