KBG syndrome
ORPHA:2332· ICD-10 Q87.8
Definition
A rare congenital malformation syndrome characterized by a typical facial dysmorphism, macrodontia of the permanent upper central incisors, short stature, skeletal anomalies, developmental delay and behavioral abnormalities.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Childhood, Infancy, Neonatal