Table 2.

Features of Cornelia de Lange Syndrome

Feature% of Persons w/FeatureComment
Synophrys98% 1In individuals w/classic features
Feeding difficulties>95%
Growth failure>95%May be noted prenatally
Intellectual disability>95%Typically severe to profound in those w/classic CdLS
Small hands & feet>90%
Long eyelashes>90%
Thin upper vermilion border of lip>90%
Downturned corners of mouth>90%
Dental problems>90%Delayed secondary tooth eruption, small or absent teeth, malposition, overcrowding, caries due to GERD, periodontal disease, & bruxism
Hypertrichosis>80%Involving the face, ears, back, & arms
Hearing loss80%>40% have profound SNHL, although hearing loss may improve over time.
Micrognathia80%In those w/classic features
Radial head underdevelopment79%
Gastroesophageal reflux disease75%
Nasolacrimal duct obstruction70%
Cutis marmorata60%
Self-injurious behavior56%
Sleep difficulties50%
Mandibular spurs42%
High & arched palate w/clefting30%
Congenital heart defects30%Most commonly pulmonic or peripheral pulmonic stenosis, VSD, & ASD

Features and frequencies are largely derived from Jackson et al [1993], Kline at al [2018] and references therein.

ASD = atrial septal defect; GERD = gastroesophageal disease; SNHL = sensorineural hearing loss; VSD = ventricular septal defect

From: Cornelia de Lange Syndrome

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