Genetic Disorder Project

Hutchinson-Gilford Progeria Syndrome

What is the Disorder?

It is a progressive genetic disorder that causes children to age rapidly, and the genetic mutation occurs randomly and isn't inherited.

Occurance: 1 in 4 - 8 million newborns



Dr. Jonathan Hutchinson in 1886 and Dr. Hastings Gilford in 1897.

Where: England


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».


Mutations in the LMNA gene

- makes lamin A, a protein that supports component of the nuclear envelope

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- Normal at birth and in early infancy

- 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


Life Span: 13 years (Some between 10 while others live until 20 or older)

Limitation: Get dehydrated often and high chance to die from heart attacks and stroke.


No cure for progeria

- 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