Table of Contents
1p36 Deletion Syndrome
Main Features
- Developmental Delay
- Seizures
- Brain Malformation
Eye Findings
- Poor vision responses (visually inattentive) 44%-64%
- Strabismus 35%-67%
- Horizontal
- Duane Syndrome- 2 cases
- Refractive Errors
- Hyperopia 41%-67%
- Myopia 17%-40%
- Astigmatism 23%
- Nystagmus 13%-23%
- Cataract
- Unilateral cataract 6%
- Bilateral lamellar cataract- 2 cases
- Retinal “albinism” 6%
- Optic nerve coloboma 3%
Other Findings
- Microbrachycephaly
- Distinctive facial features
- Deep-set eyes, straight eye brows, mid face hypoplasia, broad flat nose, long philtrum, pointed chin, low-set and
- backwards rotated ears
from Reference (1)
- Brachylactyly
- camptodactyly
- short feet
- Hearing problems
Etiology
- Deletion of 1p36
- 1:5,000 newborns
- Most common terminal deletion syndrome