Disorders of development and growth Flashcards
1
Q
What is myelomeningocele?
A
- Cauda equina come out of sac
- Can cause paralysis to legs to some degree
- Because cells haven’t migrated
2
Q
What does congenital mean?
A
-Present at birth
-Not always genetic
3
Q
What does inherited mean?
A
Caused by an inherited genetic abnormality
4
Q
What’s an example of an inherited disorder?
A
Down’s syndrome
5
Q
What are the features of Down’s syndrome?
A
-Trisomy chr 21
- Beta amyloid present on chromosome 21, produces too much of this protein
- Causes early dementia
6
Q
What is polygenic inheritance?
A
Variation in a lot of genes
7
Q
What type of disorder is Huntington’s disease?
A
Inherited
8
Q
What is Huntington’s disease caused by?
A
- Hungtingtin protein
- Doesn’t break down properly, destroys neurones
9
Q
What is an acquired disorder?
A
- Caused by non-genetic environmental factors
- Could be congenital
10
Q
What’s an example of an acquired disorder?
A
Fetal alcohol syndrome
11
Q
What’s a consequence of too much growth hormone?
A
Acromegaly
