Box 1: Clinical features of Cornelia de Lange Syndrome

Box 1: Clinical features of Cornelia de Lange Syndrome


Box 1: Clinical features of Cornelia de Lange Syndrome

 Feature Cardinal Features1 Suggestive features2
Meeting of the medial eyebrows in the midline and/or thick eyebrowsX
Short noseX
concave nasal ridge (nasal ridge curving posteriorly to an imaginary line that connects the nasal root and tip)X
nose with an upturned tipX
Long, indistinct philtrum (vertical indentation in the middle area of the upper lip)X
Thin upper lipX
downturned corners of mouthX
Presence of fewer than the normal number of fingers and/or absence of fingers or toes from birthX
Congenital diaphragmatic hernia (abnormal opening in the diaphragm present from birth)X
Global developmental delay and/or intellectual disability/learning disabilityX
Prenatal growth retardation (restricted growth prior to birth)X
Postnatal growth retardation (restricted growth after birth)X
Microcephaly (decreased size of head, can occur prior to or after birth)X
Small hands and/or feetX
Short fifth fingerX
Abnormally increased hair growthX
  1. ^ considered to be the most common; 2 points each if present
  2. ^ less specific to CdLS; 1 point each if present

Clinical score

  • 11 points and above, of which at least 3 are cardinal: classic CdLS
  • 9 or 10 points, of which at least 2 are cardinal: non-classic CdLS
  • 4-8 points, of which at least 1 is cardinal: individual should be genetically tested for CdLS
  • Less than 4 points: insufficient to indicate genetic testing for CdLS should conducted

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