Table 1.
The prevalence of major findings in more than 350 individuals with Kabuki syndrome (KS)
| Finding | Prevalence (%) |
|---|---|
| Typical facial features* |
~ 95 |
| Intellectual disability |
92 |
| Hypotonia |
25-89 |
| Postnatal growth retardation |
35-81 |
| Joint hypermobility |
50-75 |
| Feeding difficulties |
70 |
| Congenital heart defects |
40-50 |
| Premature thelarche |
7-50 |
| Hearing loss |
40 |
| Seizures |
10-39 |
| Ocular anomalies |
33 |
| Cleft lip and/or palate |
33 |
| Renal and urinary tract anomalies |
25 |
| Immune dysfunction: |
~ 20 |
| Hypogammaglobulinemia, |
|
| Idiopathic Thrombocytopenic Purpura (ITP), Autoimmune haemolytic anemia, |
|
| Thyroiditis |
|
| Vitiligo |
*Elongated palpebral fissures with eversion of the lateral third of the lower eyelid; Arched and broad eyebrows; Short columella with depressed nasal tip; and large, Prominent, or cupped ears.