Table 2

Clinical diagnostic criteria for Rubinstein-Taybi Syndrome

CardinalSupportive
 1.Face (at least three of six). a. Maternal pre-eclampsia.
 a. Highly arched eyebrows. b. Keloids.
 b. Downslanted palpebral fissures. c. Hypertrichosis.
 c. Convex nasal ridge.1 point if c is positive, or
 d. Columella below alae nasi.3 points if a and/or b (with or without c) are positive.
 e. Highly arched palate.
 f. Typical smile.
  3 points or
  4 points if d and/or f are positive.
 2.Skeletal.
 a. Angulated thumbs and/or halluces.
 b. Broad thumbs.
 c. Broad halluces.
  3 points if b and/or c is positive, or
  4 points if a (with or without b/c) is positive.
 3. Growth.
 a. Microcephaly.
 b. Postnatal growth retardation.
2 points if a and/or b are positive.
 4. Development.
Delayed development/intellectual disability
2 points.
  • Cardinal Score is positive only if two of the four groups score positiscores ve and also at least either skeletal or craniofacial scores positive

  • Definitive clinical diagnosis of Rubinstein-Taybi syndrome: Score ≥12 and positive cardinal score.

  • Likely clinical diagnosis of Rubinstein-Taybi syndrome: Score 8–11 and positive cardinal score. This score warrants molecular analyses of CREBBP and EP300.

  • Possible clinical diagnosis of Rubinstein-Taybi syndrome: Score 5–7 and negative cardinal score. This score warrants molecular analyses of CREBBP and EP300.

  • Unlikely clinical diagnosis of Rubinstein-Taybi syndrome: Score 0–4 and negative cardinal score. Further studies for other aetiologies indicated.