NPR2

Parents

Skeletal Dysplasias are a group of more than 400 rare disorders that affect bone and cartilage development, occurring in roughly 1 in 5,000 births. Acromesomelic Dysplasia Maroteaux type (AMDM) causes short-limb dwarfism and is characterised by short stature, short forearms and forelegs, and small hands and feet. Acromesomelic Dysplasia is inherited in an autosomal recessive pattern, meaning that both parents must be carriers of the mutations causing the disease. There are currently no cures, however several treatment options are available, such as physiotherapy, braces/casts, and corrective surgery.