Diagnostic testing: The diagnosis of the classic form of CdLS requires a positive finding of mutations
in the NIPBL gene.
Physical findings: In children, classic CdLS is characterized by:
• Early feeding difficulties;
• Global developmental delays with severe to profound intellectual disabilities;
• Limited language;
• Poor growth;
• Skeletal abnormalities involving missing digits of the hands (oligodacyly);
• Small head size (microcephaly);
• Characteristic facial features with low set ears, long eyelashes, bushy eyebrows
joined in the middle (synophrys), widely spaced teeth, upturned nose;
• Excessive body hair (hirsutism);
• Cardiac septal defects;
• Genital abnormalities (males);
• Musculoskeletal abnormalities including reduction defects with absent forearms alone,
small hands or feet, and missing fingers;
• Gastroesophageal reflux;
• Hearing loss; and
• Vision abnormalities.
Some children with CdLS demonstrate stereotypical behaviors similar to autism, including
self-stimulation, self-destructive tendencies, hyperactivity, and other behavior problems.