Audrey Harris

Period 8 Biology

Diastrophic Dysplasia

Diastrophic dysplasia, abbreviated as DTD, and also known as diastrophic dwarfism, is a

genetic disease that affects roughly 1 in 100,000 newborns. It is a disorder of cartilage and bone

development. Patients who are affected with diastrophic dysplasia tend to be very small in

stature, and they often develop extremely short arms and legs. Newborns with diastrophic

dysplasia are often born with an inward and upward turning foot also known as a clubfoot

(Pictured on left) , progressive curvature of the spine commonly called scoliosis (Pictured above

and to the right), as well as unusually positioned thumbs often referred to as hitchhiker's thumbs.

About half of infants with diastrophic dysplasia are born with a cleft palate and/or swelling of the

ears. This often can lead to thickened and deformed ears.

DTD is passed down from parents to offspring and is caused

by a mutation in the SLC26A2 gene. Today, patients

diagnosed with DTD are expected to live into adulthood due

to the many options for disease management. This paper is

going to discuss how DTD is inherited, the probability of

inheriting the disease, common signs of DTD, ways of

diagnosing it and several different treatment and management options.

Diastrophic dysplasia is caused by a mutation in the SLC26A2 gene. There are

also several other skeletal diseases that are associated with this gene. This particular gene is

responsible for providing instructions for making a protein that is essential for the normal
 development of cartilage and for its conversion into

bone. Mutations in the SLC26A2 gene (pictured in the

image below) change the structure of developing

cartilage which prevents a person's bones from forming

properly and this often results in the skeletal problems

characteristic of diastrophic dysplasia ex: hitchhiker's

thumbs, scoliosis, deformities in the limbs...etc.

Diastrophic dysplasia is inherited in an autosomal

recessive pattern. Because it is an autosomal recessive

trait, diastrophic dysplasia does not affect any one particular sex. It also appears in all

populations although it is found to be particularly common in white people and the population of

Finland. It affects about 1 in 100,000 infants worldwide. Because it is inherited in an autosomal

recessive pattern, both copies of the gene in each cell have mutations. The parents of an affected

individual with an autosomal recessive condition such as diastrophic dysplasia each carry one

copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Another way of describing this is that the parents are often non symptomatic carriers of the

disease. If two carriers of diastrophic dysplasia have a biological baby, their child has a 25%

chance of being unaffected

and not a carrier, a 25%

chance of inheriting the

disease and becoming

symptomatic and a 50%

chance that they too will become non symptomatic carriers of the disease. These statistics are

demonstrated in the diagram to the left.

Another name for Diastrophic dwarfism is diastrophic

dwarfism. This is become people with this disease have

developmental issues involving their bones as well as their cartilage.

Many DTD patients end up becoming very short in stature with short

limbs. Babies born with DTD are often much smaller than the

average newborn being often only 16.5 inches as opposed to 19-21

inches. A baby with DTD is picture on the right. Common visual

indicators of the diastrophic dysplasia include a clubfoot, scoliosis, strangely positioned thumbs,

being very short, having short arms and legs, developing swollen ears and being born with a cleft

palate. Patients cartilage will sometimes never properly form into bones and if it does, it often

forms incorrectly leaving damaged skeletal structures. Diastrophic dysplasia can be diagnosed

early on in life thanks to all the technology we have at our fingertips. X Rays can be used to see

bone structures and developmental abnormalities. Magnetic resonance imaging also known as an

MRI can be used to get detailed images of

internal organs and body structures. An MRI

uses large magnets, radio frequencies and a

computer to produce detailed images of organs

and structures within the body. Computed

tomography or a CT scan uses of combination

of X-rays and computer technology to produce

cross sectional images or slices of the body. It

uses X-ray and computer technology to produce these images. EOS imaging, which is an

imaging technology that creates a 3-dimensional model from two planar images. Unlike a CT

scan, EOS images are taken while the patient is in an upright or standing position. This enables

improved diagnosis because of the ability to see different weight-bearing positions. Blood tests

are able to help in determining proper drug usage and its effectiveness, as well biochemical

diseases and levels of organ function. Genetic testing, in which a sample of a patient's saliva is

used to identify their DNA can be used as the final step of determining whether they have

diastrophic dysplasia or not. Radioisotope bone scans can be used to help locate areas of

abnormal growth. Finally, Arthrography, the process in which colored dye is injected into a joint,

most commonly but not limited to: the shoulders, hips, knees, elbows and or wrists and X-ray

images are taken to identify any problems. Many symptoms become apparent at birth while

others develop later on in life. For example, obesity is a common issue in diastrophic dysplasia

patients. This is because a common symptom is a condition called contractures. These

contractures are painful joint deformities that restrict movement. Many patients end up

wheelchair bound for the majority of their life. Obesity is a growing concern as the patient

becomes less and less mobile. Nutrition therapy is often initiated early on in life as a precaution

of obesity and as an attempt to promote the highest possible level of health.

Due to the fact that diastrophic dysplasia is a genetic disease, there is no cure for it.

However, there are several ways in which one can manage their symptoms. Not only is

nutritional therapy a valuable tool, there are also many other option of disease management that

range from surgical to physical therapy. Two very common surgical operations that are

performed on infants with diastrophic dysplasia are operations are used to correct a clubfoot and

a cleft palate (picture shown on the right). Both of these deformities are common symptoms of
infants born with diastrophic dysplasia. Surgery is also a common practice that can be used to

fix an infant's abnormally positioned thumb, aka a hitchhiker's thumb (Image shown below and

to the left). Many infants suffering from diastrophic dysplasia also have difficulty breathing

although it isn't fatal the majority of the time. Some non surgical treatment options include casts

and braces. For example, a child with bowed legs may not need surgery, only a long legged cast

to help straighten them out. Internal fixation can also be used to fix bowed legs. Hip

displacement is often treated with either surgery or a cast around both legs as well as the childs

whole midsection. Physical therapy is also an option that can be used to help rehabilitate a

patient after surgery or it can be used as a way of helping patients become more mobile even

with their joint and bone deformities. Finally, surgery can often be used to fix diastrophic

dysplasia related scoliosis. Surgery is recommended only for people suffering from spinal

curvature that is greater than 40-45 degrees. Surgery is often able to improve spinal curvature by

about 50%. While many of these surgical options can help with symptoms, there are also many

drawbacks and risks to performing these surgeries. These risks include, paralysis, suffering

severe blood loss, development of an infection and even then, theres a chance that the surgery

might not work and the curvatures or deformities may continue to get worse over time. Even

with these risks, there are small chances of fatality and the majority of diastrophic dysplasia

patients are expected to live into adulthood.

In conclusion, diastrophic while it is a fairly uncommon

disease should not be taken lightly. The many indicators that

appear early on in life as well as the many options of diagnostic

technology allow DTD patients to live a reasonably normal

life.