achondroplasia_flashcards
What is achondroplasia?
An autosomal dominant disorder associated with short stature.
What causes achondroplasia?
A mutation in the fibroblast growth factor receptor 3 (FGFR-3) gene.
What are the physical characteristics of achondroplasia?
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.
What are ‘trident’ hands?
Hands with a separation between the middle and ring fingers, giving a three-pronged appearance.
What is the inheritance pattern of achondroplasia?
Autosomal dominant.
What is the main risk factor for sporadic cases of achondroplasia?
Advancing parental age at the time of conception.
How is achondroplasia typically inherited once present?
In an autosomal dominant fashion.
Is there a specific therapy for achondroplasia?
No, there is no specific therapy.
What treatment may benefit some individuals with achondroplasia?
Limb lengthening procedures.
What is essential for the success of limb lengthening procedures in achondroplasia treatment?
A clearly defined need and end point.
