2017 - The sixth CdLS is discovered.

ANKRD11 the sixth “CdLS gene” is discovered. 

KBG syndrome is a neurodevelopmental disorder caused by mutations in the ANKRD11 gene. Some individuals with mutations in ANKRD11 have been reported to present with clinical features suggestive of Coffin-Siris syndrome or Cornelia de Lange syndrome. KBG syndrome is characterized by intellectual disability and/or developmental delays, characteristic facial features (triangular face, brachycephaly or a flatter appearing head, synophrys and hypertelorism or widely spaced eyes), large upper central incisors, skeletal anomalies, postnatal short stature, conductive hearing loss, and behavioral abnormalities (such as autism spectrum disorder or hyperactivity)