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 |