4 Interesting Facts of Kabuki syndrome
- Congenital syndrome characterized by growth deficiency, mental disability, and skeletal abnormalities
- Specific abnormalities include persistent fetal fingertip pads and facial dysmorphology (prominent cupped dysplastic ears; arched, broad eyebrows with sparse lateral third; short columella with depressed nasal tip; elongated palpebral fissures with eversion of the lateral third of the lower eyelid)
- Variable findings include congenital heart defects, genitourinary anomalies, gastrointestinal abnormalities, ocular anomalies, dental abnormalities, and cleft lip/palate
- Dysmorphic facies, intellectual disability, short stature, and congenital heart defects are features of both Williams and Kabuki syndromes
- Distinguishing features include seizures, scoliosis, nystagmus, and autoimmune disorders
- Differentiated from Williams syndrome by mutational analysis and detection of alterations in the KMT2D/KDM6A gene
