Kabuki syndrome

4 Interesting Facts of Kabuki syndrome 

  1. 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
  2. Dysmorphic facies, intellectual disability, short stature, and congenital heart defects are features of both Williams and Kabuki syndromes
  3. Distinguishing features include seizures, scoliosis, nystagmus, and autoimmune disorders
  4. Differentiated from Williams syndrome by mutational analysis and detection of alterations in the KMT2D/KDM6A gene

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