II. Epidemiology
- Age: Young children
- Onset in the first few years of life
III. Pathophysiology
- Genetic mutation (typically sporadic, e.g. NSD1)
IV. Signs
- Tall Stature
- Prominent forehead
- Hypertelorism (wide set eyes)
- High arched Palate
- Large irregular head
- Antimongoloid slant of palpebral fissures
- Intellectual Disability
- Advanced Bone Age
V. Labs
- See Tall Stature
- Lab results are normal in this condition
VI. Imaging
- Renal Ultrasound
- Echocardiogram