Wiedemann-Steiner syndrome

Genetics

• associated with mutations in KMT2A

Clinical manifestations

• hairy elbows (hypertrichosis cubiti),
• intellectual disability
• a distinctive facial appearance
  • long eyelashes,
  • thick or arched eyebrows with a lateral flare
  • downslanting & vertically narrow palpebral fissures
• short stature

More general terms

• genetic syndrome (multisystem disorder)

Database

• OMIM: https://mirror.omim.org/entry/605130