Diastrophic dysplasia
Diastrophic dysplasia Causes
Diastrophic dysplasia is an inherited disorder that follows a certain type of pattern known as autosomal recessive. This means that for it to be passed on to a child, both of the parents must be a carrier of the diastrophic dysplasia or DD gene. A couple who has passed on the DD gene to a child has a 25% risk of passing on the disorder to their future children.
Diastrophic dysplasia Definition
Diastrophic dysplasia or DD is considered to be an uncommon kind of dwarfism. Occuring only once out of 500,000 births (in the U.S.), it is the top three among all types of dwarfism.
Diastrophic dysplasia Diagnosis
Prenatal diagnosis involves DNA and chorionic villus studies. Another very accurate prenatal diagnosis is the use of ultrasonography.
Diastrophic dysplasia Symptoms and Signs
Symptoms of diastrophic dysplasia includes the follwing: cleft palate, short limbs, severe clubfoot, progressive deformities of the joints, deformities of the ear, gradual spinal curvature, hand deformities,and degenerative changes in the joints.
Diastrophic dysplasia Treatment
Diastrophic dysplasia does not really affect speech or intelligence. A lot of children with this disorder undergo many surgical procedures within 48 months from birth. Some may be put on long-leg or waist-to-toes casts to address dislocated hips and/or clubfeet.