Table of Contents
Sotos Syndrome
Main Features
- Distinctive Facial Features
- Broad, prominent forehead with a dolichocephalic head shape, sparse frontotemporal hair,downslanting palpebral fissures, malar flushing, long and narrow face, tall chin
From Reference 2
- Learning disability
- Overgrowth > 2 SD above the mean (98th percentile)
- Tall stature
- Macrocephaly
Eye Findings
- Strabismus
- Nystagmus
- Cataract
- Refractive error
- astigmatism
- myopia
- hyperopia
- Optic atrophy
- Retinal atrophy
- Megalophthalmos
Other Findings
- Behavioral problems especially autism
- Advance bone age
- Cardiac anomalies
- PDA, septal defects or more complex anomalies
- Cerebral ventriculomegaly
- Joint hyperlaxity with or without pes planus
- Renal anomalies- most commonly VUR
- Scoliosis
- Seizures
Etiology
- Mutations in the NDS1 gene
- 5q35 microdeletion encompasing NDS1