Table II.
Congenital anomalies most commonly reported in individuals with Emanuel syndrome
| Category | Specific Anomaly | Percentage |
|---|---|---|
| Craniofacial | Ear pits | 76 |
| Preauricular tags | 33 | |
| Other ear differences1 | 30 | |
| Cleft palate | 54 | |
| Complete | 24 | |
| Pierre Robin sequence | 34 | |
| Soft palate only | 28 | |
| Submucous/bifid uvula only | 14 | |
| Micrognathia | 60 | |
| Excess nuchal skin | 24 | |
| Cardiovascular | Overall | 57 |
| ASD | 45 | |
| VSD | 13 | |
| PDA | 11 | |
| Other2 | 10 | |
| Gastrointestinal | Imperforate anus | 14 |
| Inguinal hernia | 14 | |
| Intestinal malrotation | 8 | |
| Renal | Overall | 36 |
| Small kidney(s) | 17 | |
| Single kidney | 12 | |
| Other3 | 7 | |
| Genital | Small penis | 64 |
| Cryptorchidism | 46 | |
| Other | Sacral dimple | 24 |
| Diaphragmatic hernia | 8 |
1
Includes abnormalities in ear shape, size, and position
2
Includes pulmonic stenosis, total anomalous pulmonary venous return, and coarctation of the aorta
3
Includes vesicoureteral reflux, cystic kidney, urethral valve abnormality and duplicated collecting system