Table 2 Comparison of the main clinical findings in individuals with molecularly confirmed Cornelia de Lange syndrome
From: Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement
HPO ID* | NIPBL | SMC1A | SMC3 | BRD4 | HDAC8 | RAD21 | ANKRD11 | |
|---|---|---|---|---|---|---|---|---|
Growth | ||||||||
IUGR | 0001511 | +++ | ++ | + | ++ | ++ | ++ | − |
Short stature | 0004322 | +++ | ++ | ++ | + | + | ++ | ++ |
Microcephaly | 0000252 | ++++ | ++ | ++ | ++ | + | ++ | + |
Craniofacial features | ||||||||
Brachycephaly | 0000248 | ++ | + | +++ | + | +++ | ++ | + |
Low anterior hairline | 0000294 | +++ | +++ | +++ | ++ | ++ | + | + |
Arched, thick eyebrows | 0002253, 0000574 | +++ | +++ | ++++ | +++ | +++ | +++ | + |
Synophrys | 0000664 | ++++ | +++ | +++ | +++ | ++++ | +++ | + |
Long eyelashes | 0000527 | ++++ | +++ | +++ | + | + | +++ | + |
Depressed nasal bridge | 0005280 | +++ | + | + | + | + | + | −a |
Anteverted nostrils | 0000463 | +++ | ++ | ++ | ++ | +++ | +++ | + |
Broad nasal tip | 0000455 | ++ | ++ | +++ | + | + | − | ++ |
Long, smooth philtrum | 0000343, 0000319 | +++ | ++ | ++ | ++ | ++ | ++ | ++ |
Thin upper vermilion | 0000219 | ++++ | +++ | +++ | ++ | + | +++ | ++ |
Downturned corners of the mouth | 0002714 | ++++ | +++ | ++ | + | ++ | +++ | − |
Highly arched palate | 0000218 | ++ | + | + | + | + | ++ | + |
Widely spaced teeth | 0000687 | +++ | + | + | − | ++ | − | −b |
Micrognathia | 0000347 | +++ | + | + | ++ | ++ | + | − |
Low-set and malformed ears | 0000369, 0000377 | ++ | + | + | − | + | + | − |
Trunk and limbs | ||||||||
Oligodactyly and adactyly (hands) | 0012165, 0009776 | + | − | − | − | − | − | − |
Small hands | 0200055 | +++ | +++ | +++ | ++ | ++++ | +++ | ++ |
Proximally placed thumbs | 0009623 | ++ | + | +++ | +++ | +++ | + | − |
Clinodactyly or short fifth finger | 0004209, 0009237 | +++ | + | ++ | + | ++ | +++ | ++ |
Small feet | 0001773 | ++++ | ++ | +++ | NR | +++ | +++ | + |
Hirsutism | 0001007 | +++ | +++ | ++++ | − | + | ++ | ++ |
Cardiovascular anomalies | 0002564 | + | + | + | + | + | + | − |
Vertebral anomalies | 0003468 | − | − | + | − | − | ++ | +++ |
Cognition and behaviour | ||||||||
Intellectual disability (any degree) | 0001249 | ++++ | ++++ | ++++ | ++++ | ++++ | + | ++++ |
ASD | 0000729 | + | + | + | − | + | + | + |
Self-injurious behaviour | 0100716 | +++ | + | NR | + | + | − | ++ |
Stereotypic movements | 0000733 | ++ | ++ | NR | NR | − | − | − |
