Genetic Disorder Project
Hutchinson-Gilford Progeria Syndrome
What is the Disorder?
Occurance: 1 in 4 - 8 million newborns
Dr. Jonathan Hutchinson in 1886 and Dr. Hastings Gilford in 1897.
Hutchinson first documented the clinical features of a boy aged 6 years who had congenital absence of the hair and atrophy of the skin.
Gilford followed up this patient and another, and in 1897 recognized it as a clinical entity and introduced the term «progeria».
- Grow more slowly
- Do not gain weight at the expected rate
- Characteristic facial appearance:
prominent eyes, a thin nose with a beaked tip, thin lips, a small chin, and protruding ears
- Alopecia, aged-looking skin, joint abnormalities, and subcutaneous fat
- Hardening of the arteries (arteriosclerosis) beginning in childhood
- High chances of having a heart attack or stroke at a young age
Test: Use clinical information such as an overall look and X-rays
Limitation: Get dehydrated often and high chance to die from heart attacks and stroke.
- Physical Therapy : Improve stiff joints or hip problems
- Surgery : Slow the progression of heart disease
- Aspirin : Prevent heart attacks
- Growth hormone : Build height and weight
- Drink water often : Prevent dehydration
- Eat many small meals : Increase body weight