Disorders Of Development And Growth

Question 1

What is genetic disease?

Answer 1

A disease that occurs primarily from a genetic abnormality
Inherited: caused by an inherited genetic abnormality

Question 2

Types of inherited disease

Answer 2

Chromosomal abnormalities
- chunks of chromosomes
- e.g Down’s syndrome - Trisomy 21
Mendelian inheritance
- dominant gene
- recessive gene
Further classified:
- autosomal
- sex-linked
- polygenic inheritance

Question 3

What is congenital disease?

Answer 3

Simply a disease that is present at birth
This classification encompasses:
- Chromosomal disorders
- Hereditary and spontaneous genetic diseases
- Non-generically determined failures of differentiation and morphogenesis

Question 4

What is non-genetic disease?

Answer 4

Environmental - foetal alcohol syndrome
Acquired - caused by non-genetic environmental factors
Multifactorial disease - diseases due to many factors
- E.g neural tube defects - spina bifida, anencephaly, hydrocephalus, cleft palate