Achondroplasia

Question 1

What is achrondoplasia?

Answer 1

Formation of abnormal cartilage results in short stature and other skeletal abnormalities

Question 2

What genetic mutation causes Achondroplasia?

Answer 2

1. Mutation in fibroblast growth factor receptor gene (FGFR3) and is inherited in an autosomal dominant fashion
2. 75% of cases are caused by sporadic mutation

Question 3

Clinical features of head and face of ‘achondroplasia’

Answer 3

1. Large head with midfacial hypolasia
2. Frontal and Occipal bossing - large forehead
3. Flat, wide nasal bridge and prominent jaw
4. Crowded teeth

Question 4

Clinical feature of body and limbs of ‘achrondoplasia’

Answer 4

1. Short hands and legs
2. ‘Trident hands’ short fingers with space between ring and middle finger
3. Bowing of the legs
4. Lumbar lordosis and kyphosis

Question 5

How is Achrondroplasia diagnosed?

Answer 5

1. May have identified short femus length on antenatal US scans
2. Genetic testing confirms diagnosis

Question 6

What are some common complications associated with ‘achrondoplasia’?

Answer 6

1. Joint pain
2. Ottitis media
3. Spinal chord compression
4. Hydrocephalus