Table 2.
Clinical findings in Smith-Kingsmore syndrome (SKS)
| SKS patientsa | Patient | |
|---|---|---|
| Very common (observed in more than 75% of patients) | ||
| Intellectual disability | 92.3% | Yes |
| Macrocephaly/Megalencephaly | 88.9% | Yes |
| Seizures | 73.9% | Yes |
| Frequent (observed in 25–75% of patients) | ||
| CNS anomaliesb | 66.7% | Yes |
| Speech anomaly | 33.3% | Yes |
| Dysmorphic facial features | 33.3% | Yes |
| Curly/wavy hair | 61.5% | Yes |
| Ventriculomegaly | 54.2% | No |
| Macrosomia at birth | 44.4% | No |
| Autistic spectrum disorder | 29.6% | No |
| Rare (observed in less than 25% of patients) | ||
| Hypotonia | 18.5% | Yes |
| Diastasis recti/herniae | 14.8% | Yes |
| Strabismus | 14.8% | Yes |
| Abnormal corpus callosum | 14.8% | Yes |
| Hyperactivity | 11.1% | Yes |
| Pes planus/talipes | 11.1% | Yes |
| Prominent abdomen | 7.4% | Yes |
| Hemangiomas | 7.4% | Yes |
| Abnormal gait | 11.1% | Delay |
| Capillary malformation of the skin | 14.8% | No |
| Hypomelanosis | 14.8% | No |
| Small Thorax | 14.8% | No |
| Café-au-lait spots | 11.1% | No |
| Polymicrogyria | 7.4% | No |
| Iris colobomata | 7.4% | No |
| Asthma | 7.4% | No |
| Lactose intolerance | 7.4% | No |
| Neonatal hypoglycaemia | 3.7% | No |
| IgA deficiency | 3.7% | No |
| Persistent food allergies | 3.7% | No |
| Intestinal polyps | 3.7% | No |
aSee Gordo et al. [6]
bOther than hemimegalencephaly