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
  1. ASD, autism spectrum disorder; HPO ID, Human Phenotype Ontology identifier; IUGR, intrauterine growth retardation; NR, not reported. ++++, ≥90%; +++, 70–89%; ++, 50–69%; +, 20–49%; −, <20%. aProminent nasal bridge. bMacrodontia (larger than normal teeth).