achondroplasia_flashcards

1
Q

What is achondroplasia?

A

An autosomal dominant disorder associated with short stature.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

What causes achondroplasia?

A

A mutation in the fibroblast growth factor receptor 3 (FGFR-3) gene.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

What are the physical characteristics of achondroplasia?

A

Short limbs (rhizomelia) with shortened fingers (brachydactyly), large head with frontal bossing and narrow foramen magnum, midface hypoplasia with a flattened nasal bridge, ‘trident’ hands, lumbar lordosis.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

What are ‘trident’ hands?

A

Hands with a separation between the middle and ring fingers, giving a three-pronged appearance.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

What is the inheritance pattern of achondroplasia?

A

Autosomal dominant.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

What is the main risk factor for sporadic cases of achondroplasia?

A

Advancing parental age at the time of conception.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

How is achondroplasia typically inherited once present?

A

In an autosomal dominant fashion.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

Is there a specific therapy for achondroplasia?

A

No, there is no specific therapy.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

What treatment may benefit some individuals with achondroplasia?

A

Limb lengthening procedures.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

What is essential for the success of limb lengthening procedures in achondroplasia treatment?

A

A clearly defined need and end point.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly