Chromosome 2p deletion syndrome
Overview
A rare chromosomal disorder where part or all of the short arm (p) of chromosome 2 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
Symptoms
- Holoprosencephaly
- Narrow face
- Rectangular face
- Narrow forehead
- Small jaw
- Large ears
- Low-set ears
- Protruding ears
- Blepharophimosis
- Strabismus
- Broad nose
- Prominent nasal bridge
- Abnormal philtrum
- Highly arched palate
- Missing teeth
- Short neck
- Narrow chest
- Spastic atactic gait
- Flexion contractures of fingers
- Short fifth fingers
- Overlapping toes
- Clinodactyly
- Whorls
- Radial loops
- Ulnar loops
- Three palmar creases
- Vertebral abnormalities
- Hypotrichosis
- Spasticity
- Undescended testes
- Growth retardation
- Speech retardation
- Motor retardation
- Mental retardation
- Reduced visual acuity
- Aggressive behavior