ORPHA:2332

KBG syndrome

Also called ANKRD11-related disorder, Short stature-facial and skeletal anomalies-intellectual disability-macrodontia syndrome

Body system

Bone diseases

Inheritance pattern

Autosomal dominant

Typical age of onset

Adolescent, Childhood, Infancy, Neonatal

Estimated prevalence

<1 / 1 000 000 (Worldwide)

Rarity class

<1 / 1 000 000

ORPHA:2332 is classified under "Bone diseases" in the Orphanet nomenclature.