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Table 1 The incidence of a number of typical features of RSTS

From: Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management

Feature Incidence (%)
Typical facial features 100
Intellectual disability ~100
Cryptorchidism 78-100
Microcephaly 35-94
Broad thumbs/halluces 96
Speech delay 90
Recurrent respiratory infections 75
Delayed bone age 74
Constipation 40-74
Talon cusps 73
Gastroesophageal reflux 68
EEG abnormalities 57-66
Renal anomalies 52
Refractive defects, glaucoma, retinopathy >50
Congenital heart defects 24-38
Seizures 25
Keloids 24
Deafness 24
Growth retardation 21
Malignant tumors 3-10
Spinal cord tethering <5