Table 1 CdLS clinical score (severity)
From: High rate of autonomic neuropathy in Cornelia de Lange Syndrome
Individuals with CdLS | 1 | 2 | 3 | 4 | 5 | 6 | 7 | 8 | 9 | 10 | 11 | 12 | 13 | 14 | 15 | 16 | 17 | 18 | 19 | 20 | 21 | 22 | 23 | 24 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Cardinal features (2 points each if present) | ||||||||||||||||||||||||
Synophrys and/or thick eyebrows | + | + | + | + | + | + | + | + | – | + | + | – | – | + | + | + | + | + | – | + | + | + | + | + |
Short nose, concave nasal ridge and/or upturned nasal tip | + | – | + | + | + | + | + | – | – | + | + | – | + | + | – | + | – | – | – | + | + | – | + | – |
Long and/or smooth philtrum | + | – | – | + | + | + | + | – | – | + | + | + | – | + | + | – | + | – | – | + | + | + | + | – |
Thin upper lip vermilion and/or downturned corners of mouth | + | + | – | + | + | + | + | – | – | + | + | + | – | + | + | – | + | – | – | + | + | + | + | – |
Hand oligodactyly and/or adactyly | – | – | – | – | – | – | – | – | – | – | – | – | – | – | – | – | – | – | – | + | + | – | – | – |
Congenital diaphragmatic hernia | – | – | – | – | – | + | – | – | – | – | – | – | – | – | – | – | – | – | – | – | – | – | – | – |
Suggestive features (1 point each if present) | ||||||||||||||||||||||||
Global developmental delay and/or intellectual disability | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | – | + | + | + | + | + | + | + | + |
Prenatal growth retardation (< 2 SD) | + | – | + | + | + | + | + | – | + | – | + | – | – | + | – | – | + | – | + | + | + | + | + | + |
Postnatal growth retardation (< 2 SD) | + | – | + | + | + | + | + | + | + | – | – | + | – | + | – | + | + | – | + | + | + | + | + | + |
Microcephaly (prenatally and/or postnatally) | – | – | + | + | + | + | + | + | + | + | + | – | – | + | – | – | + | + | – | + | + | + | + | – |
Small hands and/or feet | – | – | + | + | + | + | + | + | – | + | + | – | – | + | – | – | – | + | – | + | + | + | + | – |
Short fifth finger | + | – | + | + | + | + | – | + | – | + | + | + | + | + | + | + | – | + | + | – | + | + | – | – |
Hirsutism | + | – | + | + | + | + | + | – | – | + | + | + | + | + | + | – | + | – | – | + | + | + | + | + |
Clinical Score | 13 | 5 | 11 | 15 | 15 | 17 | 14 | 7 | 4 | 13 | 14 | 8 | 5 | 15 | 9 | 6 | 11 | 6 | 4 | 16 | 17 | 13 | 14 | 6 |
Individuals with CdLS | 25 | 26 | 27 | 28 | 29 | 30 | 31 | 32 | 33 | 34 | 35 | 36 | 37 | 38 | 39 | 40 | 41 | 42 | 43 | 44 | 45 | 46 | 47 | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Cardinal features (2 points each if present) | ||||||||||||||||||||||||
Synophrys and/or thick eyebrows | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | |
Short nose, concave nasal ridge and/or upturned nasal tip | + | + | + | + | – | + | + | – | – | + | – | + | – | + | – | + | + | + | – | + | + | + | + | |
Long and/or smooth philtrum | + | + | + | + | – | – | + | + | – | + | + | + | – | + | – | – | – | – | + | + | + | – | + | |
Thin upper lip vermilion and/or downturned corners of mouth | + | + | + | + | – | – | – | – | – | + | – | + | – | + | – | + | – | – | + | + | + | + | + | |
Hand oligodactyly and/or adactyly | – | – | – | – | – | – | – | – | – | – | – | – | – | + | – | – | – | – | – | – | + | – | – | |
Congenital diaphragmatic hernia | – | – | – | – | – | – | – | + | – | – | – | – | – | – | – | – | – | – | – | – | – | – | – | |
Suggestive features (1 point each if present) | ||||||||||||||||||||||||
Global developmental delay and/or intellectual disability | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | |
Prenatal growth retardation (< 2 sD) | + | – | – | + | + | – | – | – | + | + | + | + | – | + | + | + | + | + | + | + | + | + | – | |
Postnatal growth retardation (< 2 sD) | + | – | + | + | + | – | + | – | + | + | + | + | + | + | – | + | + | + | + | + | + | + | – | |
Microcephaly (prenatally and/or postnatally) | + | – | + | + | + | – | + | – | + | + | – | + | – | + | – | + | – | + | + | + | + | + | + | |
Small hands and/or feet | + | + | + | + | – | – | – | – | + | + | + | – | + | + | – | + | – | + | – | + | + | + | + | |
Short fifth finger | – | – | + | + | + | + | + | + | + | + | + | + | + | – | – | + | – | + | – | + | – | + | + | |
Hirsutism | + | + | + | + | + | + | + | – | + | + | – | + | – | + | – | + | – | – | + | + | + | + | + | |
Clinical Score | 14 | 11 | 14 | 15 | 8 | 7 | 11 | 8 | 9 | 15 | 9 | 14 | 6 | 16 | 4 | 13 | 7 | 10 | 11 | 15 | 16 | 13 | 13 |