Basics
What is Achondroplasia?
A genetic condition affecting bone growth
What part of the body is normal size?
The trunk
What's the name of the breathing issue?
Sleep apnea
Medication that starts with V
Vosoritide
Name one famous actor with this condition
Peter Dinklage, Warwick davis, or Zelda Rubinstein
What gene causes Achondroplasia
FGFR3 Gene
Which limbs are shortened most?
What spine condition can occur?
Spinal stenosis
Is limb legthening required?
No, it is optional
Were roles stereotypical in the past?
Yes
How is it inherited?
Autosomal Dominant Pattern
What is the hand shape called?
Trident shape
Name a common childhood issue
Ear infections
What type of injection is Vosoritide?
Daily injection
What is improving today?
Representation
What process of bone growth is affected?
Ossification
What is the term for upper limb shortening?
Rhizomelic Shortening
What type of breathing risk occurs in infancy?
Airway or skull base narrowing
What newer medication is given weekly?
Navepegritide
Name an actor from Harry Potter and Star Wars with this condition
Warwick davis
What percentage of cases are spontaneous?
About 80%
What facial feature involves a prominent forehead?
Frontal bossing
What major adult risk affects lifespan?
Cardiovascular disease
What experimental oral drug is being studied?
Infigratinib
What is a major issue in casting historically?
Typecasting