Table 2.

Clinical diagnostic criteria for Rubinstein-Taybi Syndrome

Cardinal	Supportive
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.