AMDM is a type of osteochondrodysplasia which, is clinically characterized with severe dwarfism and shortening of the middle and distal segments of the limbs, as well as having short broad fingers and vertebral abnormalities. Facial appearance and intelligence are normal, and so are birth lengths and weights, but skeletal growth drops sharply after birth.

Diagnosis can be made on the basis of clinical and radiological findings from around the age of two years; with features such as abnormal growth plates and short, misshapen bones in the limbs and spine. Since no major complications occur in the course of the disease, patients only require physiotherapy to control progression of spinal abnormalities. Additionally, psychotherapy can be offered to help patients deal with social challenges.