Table 1

Main clinical findings in percentages of individuals with molecularly confirmed Rubinstein-Taybi syndrome

HPO ID* CREBBP (n=308) EP300 (n=52)
Growth
Intrauterine growth retardation00015114942
Postnatal growth retardation00043227566
Obesity00015132939
Microcephaly00002525487
Craniofacial features
Highly arched eyebrows00022538565
Long eyelashes00005278990
Epicanthal folds00002864415
Strabismus00004867139
Myopia00005455624
Downslanted palpebral fissures00004947956
Convex nasal ridge00004448144
Columella below alae nasi00097658892
Typical smile†00002739447
Highly arched palate00027057767
Talon cusps‡0011087734
Micrognathia00003476142
Low-set ears00003694427
Trunk and limbs
Broad thumbs00113049669
Angulated thumbs§492
Broad finger tips00113008722
Broad halluces00100559581
Hypertrichosis00009987651
Keloids00105622310
Scoliosis00026501825
Cardiovascular anomalies00025643526
Constipation00020197654
Urinary tract anomalies00000792824
Neuromuscular
Seizures00012502510
Cognition and behaviour
Intellectual disability (any degree)00012499994
Autism/autism spectrum disorder00007294925
  • *HPO ID, Human Phenotype Ontology Identifier.

  • †Smile characterized by crescent-moon shaped palpebral fissures, deepening of labionasal folds, upturned corners of the mouth, usually mouth almost closed, tight upper vermillion and pouting lower vermillion.

  • ‡Permanent dentition.

  • §No HPO identifier available; we used as definition: angulation of the distal phalanx of a thumb towards the anterior axis (radial side) of the limb.