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 eyebrows | X | |
| Short nose | X | |
| concave nasal ridge (nasal ridge curving posteriorly to an imaginary line that connects the nasal root and tip) | X | |
| nose with an upturned tip | X | |
| Long, indistinct philtrum (vertical indentation in the middle area of the upper lip) | X | |
| Thin upper lip | X | |
| downturned corners of mouth | X | |
| Presence of fewer than the normal number of fingers and/or absence of fingers or toes from birth | X | |
| Congenital diaphragmatic hernia (abnormal opening in the diaphragm present from birth) | X | |
| Global developmental delay and/or intellectual disability/learning disability | X | |
| 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 feet | X | |
| Short fifth finger | X | |
| Abnormally increased hair growth | X |
- ^ considered to be the most common; 2 points each if present
- ^ 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
