Diastrophic dysplasia is a disorder of cartilage and bone development. Affected individuals have short stature with very short arms and legs. Most also have early-onset joint pain (osteoarthritis) and joint deformities (contractures), which restrict movement. These joint problems often make it difficult to walk and tend to worsen with age.

Dr. Hoernschemeyer at the University of Missouri is experienced in treating and managing this condition.

Although the exact incidence of this condition is unknown, researchers estimate it affects about 1 in 100,000 newborns. Diastrophic dysplasia occurs in all populations but appears to be particularly common in Finland.

Characteristics of diastrophic dysplasia

Additional features of diastrophic dysplasia include an inward- and upward-turning foot (clubfoot), progressive abnormal curvature of the spine and unusually positioned thumbs (hitchhiker thumbs). About half of infants with diastrophic dysplasia are born with an opening in the roof of the mouth (cleft palate). Swelling of the external ears is also common in newborns and can lead to thickened, deformed ears.

Symptoms of diastrophic dysplasia

The signs and symptoms of diastrophic dysplasia are similar to those of another skeletal disorder called atelosteogenesis type 2; however, diastrophic dysplasia tends to be less severe. Although some affected infants have breathing problems, most people with diastrophic dysplasia live into adulthood.

Resources for families

For more resources and additional details, visit The Genetics Home Reference.