Achondroplasia

Question 1

What is the most common form of disproportionate short stature?

Answer 1

Achondroplasia

Question 2

What is this describing?

Formation of abnormal cartilage resulting in short stature and other skeletal abnormalities, spontaneous in 80%.

Answer 2

Achondroplasia

Question 3

What is the genetic cause of achondroplasia?

Answer 3

Mutation in FGF receptor Gene 3

Question 4

What is this a presentation of?
Large head and midfacial hypoplasia, frontal and occipital bossing, flat and wide nasal bridge, prominent jaw, short arms and legs, short fingers, short stature, lumbar lordosis and kyphosis, bowing of legs, flexible joints, bulky arms and legs.

Answer 4

Achondroplasia

Question 5

How is achondroplasia diagnosed?

Answer 5

Short femur length on antenatal USS relative to abdominal circumference, genetic testing confirms.

Question 6

What should you monitor for in achondroplasia?

Answer 6

Joint pain, otitis media, spinal cord compression, and hydrocephalus.