New Orphanet summary reviewed by ITHACA : Kabuki syndrome

Kabuki syndrome : A rare multiple congenital anomalies/neurodevelopmental disorder characterized by five major features: intellectual disability (typically mild to moderate), visceral malformations (frequently congenital heart defects), persistence of fetal fingertip pads, post-natal short stature, skeletal anomalies (brachymesophalangy, brachydactyly V, spinal column abnormalities and fifth digit clinodactyly) and specific facial features (arched and broad eyebrows, long palpebral fissures, eversion of the lower eyelid, large prominent, cupped ears, depressed nasal tip and short columella). Various additional features are frequently observed.

Kabuki syndrome has just been updated on Orphanet (ORPHA2322) – september 2020 – and  the summary revised by Pr David GENEVIEVE for ERN ITHACA

Follow the link to read the summary