The 3D images were analysed and compared with composite faces of age- and sex-matched unaffected Dutch controls to define which facial features are distinctive for KBG syndrome. The composite ...

KBG syndrome can cause unusual facial development, skeletal abnormalities, intellectual underdevelopment and heart defects. The syndrome is caused by mutations in the ANKRD11 gene, which plays a ...

She was about four years old by the time her test results were finalized in 2018. Genetic examination revealed that Veronica had KBG Syndrome, and the ailment was the source of her epilepsy, vision ...

An inquest into the girl’s death at Dublin District Coroner’s Court on Monday heard that she was diagnosed with a previously ...

Shelby, 19, has KBG syndrome, a rare diagnosis with characteristics similar to autism. Throughout her life, Shelby has surprised her parents with breakthroughs like riding a bike and finishing ...

Davey Shield, 34, was the first person in the UK to be diagnosed with the rare condition KBG Syndrome and even today there are only 240 known cases worldwide. The rare genetic disorder means that ...

A young Laois teenager, who had an undiagnosed rare genetic disorder, suffered fatal bleeding in her brain following a fall during an epileptic seizure at her home, an inquest has heard.

Rosie Kirkman, an eight-year-old from Pitsea, was born with a very rare genetic condition called KBG syndrome – which in some cases, like Rosie’s, causes congenital heart defects. At just ten ...