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
stature, with height and weight falling below the fifth percentile throughout life.
Growth, while slowed, tends to be symmetric and proportionate (Deardorff et al., 2011). Weight at birth for children with CDLS is on average 5 Ibs, 1 oz., and average length is about 18 inches
(Cornelia de Lange Syndrome Foundation, n.d.). Delayed growth becomes more noticeable by six months of age (Deardorff et al., 2011). This growth delay may be further exacerbated by nutritional deficiencies resulting from gastroesphogeal issues, which will be described in more detail below. Microcephaly, or small head size, is also a common feature (Cornelia de Lange
Syndrome Foundation, n.d.); average head circumference in adults is 49 cm (Liu & Krantz,
2009).
Additionally, the majority of individuals with CdLS have intellectual disability and developmental delay. Those with the classic CdLS phenotype have severe to profound cognitive impairment, although it is also possible for individuals to have a milder phenotype and higher
IQs, even in the normal range. Overall, the average IQ associated with the syndrome is 53, with a range from below 30 to 102 (Deardorff et al., 2011). Problems with learning and speech often accompany developmental delays. Behavior problems are also common, and symptoms similar
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
stature, with height and weight falling below the fifth percentile throughout life.
Growth, while slowed, tends to be symmetric and proportionate (Deardorff et al., 2011). Weight at birth for children with CDLS is on average 5 Ibs, 1 oz., and average length is about 18 inches
(Cornelia de Lange Syndrome Foundation, n.d.). Delayed growth becomes more noticeable by six months of age (Deardorff et al., 2011). This growth delay may be further exacerbated by nutritional deficiencies resulting from gastroesphogeal issues, which will be described in more detail below. Microcephaly, or small head size, is also a common feature (Cornelia de Lange
Syndrome Foundation, n.d.); average head circumference in adults is 49 cm (Liu & Krantz,
2009).
Additionally, the majority of individuals with CdLS have intellectual disability and developmental delay. Those with the classic CdLS phenotype have severe to profound cognitive impairment, although it is also possible for individuals to have a milder phenotype and higher
IQs, even in the normal range. Overall, the average IQ associated with the syndrome is 53, with a range from below 30 to 102 (Deardorff et al., 2011). Problems with learning and speech often accompany developmental delays. Behavior problems are also common, and symptoms similar