Table 2. [Select Features of Rubinstein-Taybi Syndrome]. - GeneReviews®

Feature	% of Persons w/Feature	Comment
Growth deficiency	73%
Eye findings	80%
Hearing loss	30%	Mostly conductive, but can also be sensorineural
Respiratory features	Common	Infections, aspiration
Cardiac features	33%
Genitourinary anomalies	27%	Cryptorchidism most common (~78%-100% of affected males)
Gastrointestinal features	88%	Feeding difficulties, constipation
Skeletal abnormalities	Common	20% scoliosis, 92% thumb/hallux anomalies
Neurologic issues	21%
Dental anomalies	73%	Talon cusps, enamel hypoplasia
Skin findings	24%	Keloids, pilomatrixomas
Recurrent infections	17%	Primarily respiratory
Tumors	30%	Benign and malignant
Developmental delays	98%
Behavioral issues	41% autism/autistic features, 27%-64% anxiety
Brain MRI abnormalities	74%	Various findings

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Adam MP, Feldman J, Mirzaa GM, et al., editors.

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