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*NIPBLSMC1ASMC3BRD4HDAC8RAD21ANKRD11
Growth
IUGR0001511++++++++++++
Short stature0004322+++++++++++++
Microcephaly0000252++++++++++++++
Craniofacial features
Brachycephaly0000248+++++++++++++
Low anterior hairline0000294+++++++++++++++
Arched, thick eyebrows0002253, 0000574++++++++++++++++++++
Synophrys0000664+++++++++++++++++++++
Long eyelashes0000527++++++++++++++++
Depressed nasal bridge0005280++++++++a
Anteverted nostrils0000463++++++++++++++++
Broad nasal tip0000455+++++++++++
Long, smooth philtrum0000343, 0000319+++++++++++++++
Thin upper vermilion0000219++++++++++++++++++
Downturned corners of the mouth0002714+++++++++++++++
Highly arched palate0000218+++++++++
Widely spaced teeth0000687+++++++b
Micrognathia0000347++++++++++
Low-set and malformed ears0000369, 0000377++++++
Trunk and limbs
Oligodactyly and adactyly (hands)0012165, 0009776+
Small hands0200055++++++++++++++++++++
Proximally placed thumbs0009623+++++++++++++
Clinodactyly or short fifth finger0004209, 0009237++++++++++++++
Small feet0001773+++++++++NR+++++++
Hirsutism0001007+++++++++++++++
Cardiovascular anomalies0002564++++++
Vertebral anomalies0003468++++++
Cognition and behaviour
Intellectual disability (any degree)0001249+++++++++++++++++++++++++
ASD0000729++++++
Self-injurious behaviour0100716++++NR++++
Stereotypic movements0000733++++NRNR
  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).