Achodroplasia Flashcards
1
Q
What is achondroplasia?
A
Autosomal dominant disorder
Short stature
Abnormal cartilage
2
Q
What are features of achondroplasia?
A
Short limbs Shortened fingers Large head with frontal bossing Midface hypoplasia - flattened nasal bridge Trident hands Lumbar lordosis
3
Q
What is risk factor for achondroplasia?
A
Advancing parent age at time of conception
Mostly sporadic mutation
