Table 2: Comparison of the main clinical findings in individuals with different genetic variants of Cornelia de Lange Syndrome.
Table 2: Comparison of the main clinical findings in individuals with different genetic variants of Cornelia de Lange Syndrome.
NR =Not reported
++++ = more than 90% of individuals
+++ = 70-89% of individuals
++ = 50-69% of individuals
+ = 20-49% of individuals
- = less than 20% of individuals
The different genes linked to Cornelia de Lange Syndrome | |||||||
NIPBL | SMC1A | SMC3 | BRD4 | HDAC8 | RAD21 | ANKRD11 | |
---|---|---|---|---|---|---|---|
Growth | |||||||
Prenatal growth retardation | +++ | ++ | + | ++ | ++ | ++ | − |
Short stature | +++ | ++ | ++ | + | + | ++ | ++ |
Microcephaly(decreased head size) | ++++ | ++ | ++ | ++ | + | ++ | + |
Head and facial features | |||||||
Wide skull shape | ++ | + | +++ | + | +++ | ++ | + |
Low frontal hairline | +++ | +++ | +++ | ++ | ++ | + | + |
Arched, thick eyebrows | +++ | +++ | ++++ | +++ | +++ | +++ | + |
Meeting of the eyebrows in the midline | ++++ | +++ | +++ | +++ | ++++ | +++ | + |
Long eyelashes | ++++ | +++ | +++ | + | + | +++ | + |
Flattened nasal bridge | +++ | + | + | + | + | + | A* |
Nose tip upturned | +++ | ++ | ++ | ++ | +++ | +++ | + |
Wide tip of nose | ++ | ++ | +++ | + | + | − | ++ |
Long, smooth philtrum (vertical indentation in the middle area of the upper lip) | +++ | ++ | ++ | ++ | ++ | ++ | ++ |
Thin upper lip | ++++ | +++ | +++ | ++ | + | +++ | ++ |
Downturned corners of the mouth | ++++ | +++ | ++ | + | ++ | +++ | − |
Highly arched palate | ++ | + | + | + | + | ++ | + |
Widely spaced teeth | +++ | + | + | − | ++ | − | B* |
Small, underdeveloped jaw | +++ | + | + | ++ | ++ | + | − |
Low-set and malformed ears | ++ | + | + | − | + | + | − |
Body | |||||||
Absence of few or all fingers | + | − | − | − | − | − | − |
Small hands | +++ | +++ | +++ | ++ | ++++ | +++ | ++ |
Thumbs attached close to wrists | ++ | + | +++ | +++ | +++ | + | − |
Bent or shorter fifth finger | +++ | + | ++ | + | ++ | +++ | ++ |
Small feet | ++++ | ++ | +++ | NR | +++ | +++ | + |
Abnormally increased hair growth | +++ | +++ | ++++ | − | + | ++ | ++ |
Heart problems | + | + | + | + | + | + | − |
Abnormal vertebrae (bones forming the backbone) | − | − | + | − | − | ++ | +++ |
Cognition and behaviour | |||||||
Intellectual disability/learning disability (any degree) | ++++ | ++++ | ++++ | ++++ | ++++ | + | ++++ |
Autism spectrum disorder | + | + | + | − | + | + | + |
Self-injurious behaviour | +++ | + | NR | + | + | − | ++ |
Stereotypic movements (repetitive, simple movement that can be suppressed) | ++ | ++ | NR | NR | − | − | − |
A* = Prominent nasal bridge rather than flattened nasal bridge
B* = Teeth are not widely spaced but are larger than normal