Kabuki syndrome
Síndrome de Kabuki
- Date
- 1981 · confidence high
- Place
- Japan
- Credited to
- Yoshikazu Kuroki y Norio Niikawa
- Field
- Life & health
What was discovered
A rare congenital disorder independently described by two Japanese teams led by Norio Niikawa and Yoshikazu Kuroki, marked by a distinctive facial appearance resembling kabuki theatre makeup.
What it led to
- Later identification of the causative genes KMT2D and KDM6A
- Better clinical characterisation of rare developmental disorders
- Diagnostic criteria for Kabuki syndrome
- Research into chromatin-regulator gene syndromes