Human Hereditary

Diastrophic Dysplasia - Jay Johnson

Other Names-

The other names for Diastrophic Dysplasia are:


  • DD
  • Diastrophic Dwarfism
  • and DTD

Causes of Disorder, and Gene affected

Causes:

  • Disorder of the cartilage and bone development.


Gene

  • Gene SLC26A2 is affected. The gene is housed on Chromosome 5

Prenatal Test

The only Prenatal test that could see if your child will have DD is DNA testing.

Symptoms of DD

The symptoms that come with DD are:


  • Short stancher
  • Short arms and legs
  • Deformation in the ear
  • Curvature of the Spine

Population Affected

A very small part of the population is affected, 1 in every 100,000 newborns are affected.

How is DTD inherited?

DTD is integrated by an "Autosomal recessive trait"

Further assistance?

As people with DTD age they must need assistance with reaching to high places, sometimes driving, and some may need help walking.

Long-Term Outlook of the Child?

The child will not fully grow to be as tall as you or I. So the child will need support and help from family, and friends.

Can someone with DTD have a child?

People with DTD could possibly have a child, but it would be very hard and come with a lot of risk, such as, their child also having DTD, the child may not live long, and they could have lots of disabilities.

But sometimes people who have DTD and have a child, their child sometimes will be lucky and will live a normal life and to be a t normal height.

Any new treatments/cures on the way?

Sadly DD doesn't have any treatments and or cures. This is because this is a genetic problem. But sometimes people with DD live a long life overcoming the things DD don't allow them to do.