Symptoms
This condition is also characterized by an unusual clubfoot with twisting of the metatarsals, inward- and downward-turning foot, tarsus valgus, and inversion adducted appearances. Furthermore they classically present with scoliosis (progressive 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 called a cleft palate. Swelling of the external ears is also common in newborns and can lead to thickened, deformed ears.
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.
Read more about this topic: Diastrophic Dysplasia
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