Achondroplasia (Dwarfism)

Achondroplasia (also called Dwarfism) is a a congenital disorder of cartilage formation that is characterized by a “dwarf” appearance.

WHAT CAUSES IT?

This condition is caused by autosomal dominant genetic mutations. With this in mind, new mutations account for most cases of this condition (which can make pedigree analysis confusion given its autosomal dominant pattern of inheritance)

WHAT ELSE ARE WE WORRIED ABOUT?

Spinal stenosis is a common medical complaint in adults with achondroplasia