Kniest Dysplasia: Symptoms, Causes, Treatment, Cost and Side Effects

Kniest Dysplasia is a genetic manipulation that causes dwarfism. The disease affects the genetic pattern of a particular protein which is responsible for the production of type 2 collagen. This change in patterns affects the normal development of bones and connective tissues. Repercussions like abnormal skeletal growth, short stature, enlarged knees, and cleft palate are visible at the time of birth.

Since it is a genetic disorder, the development of the medical condition initiates during the fetal stage. The child gets the disease from the ancestors or the default genetic of the parents.

Summary: Kniest Syndrome or Kniest Dysplasia is a genetic disorder that causes abnormalities in the structure and development of connective tissues and bones.

Most of the symptoms of Kniest Dysplasia are visible in the fetal or neonatal stage. Other signs show their presence as the child grows. Here is the list of symptoms that can be seen in the patient of Kniest Dysplasia:

• Abnormally short “barrel-shaped” chest
• Long trunk
• Flat face
• Protruding eyes
• Low nasal bridge
• Cleft palate
• Speech impairment
• Myopia ( later develop in retinal detachment and cataracts)
• Dislocated eye lenses
• Blepharoptosis
• Possible blindness
• Glaucoma
• Short limbs
• Epiphyses
• Contracted hips
• Congenital flattening of the vertebrae
• Spine hump
• Inguinal
• Umbilical
• Frequent ear infections
• Slowed motor development
• Hearing loss
• Holes in the cartilage
• Burton disease (rare)

Summary: Kniest Dysplasia symptoms are mainly focused on the abnormal development of certain connective tissues and bone structures.

Kniest Dysplasia is caused by inherited development of mutation of the COL2A1 gene. This gene commands a protein that is responsible for the development of collagen type 2. The key role of collagen type 2 is to build cartilage, bone, and other types of connective tissues. Mutated COL2A1 gene gives usual commands to the protein which results in abnormal placement and production of collagen type 2. This medical condition is “autosomal dominant” in its nature of transmission.

Autosomal dominant is known as a pattern of inheritance where affected individuals even if they possess only one copy of a mutant gene (autosomal chromosomes) and one copy of the normal gene. Children have a 50-50 chance of inheriting autosomal dominant diseases from their respective biological parents.

Summary: Mutation during the development of the COL2A1 gene is the reason behind Kniest Dysplasia. This gene is responsible for controlling the protein which commands the production and arrangement of collagen type 2 in our body.

The diagnoses of the disease mostly start with the patient's medical history and assessment of current symptoms. Other than that your doctor will also collect information about your family medical history in order to trace the roots of the genetic disorder.

After that screening tests like X-rays will be conducted to assist the situation of the bone cartilage. Other than that a blood test will be conducted to trace the presence of COL2A1 gene mutation.

Summary: Kniest Dysplasia is diagnosed with the help of screening tests like x-ray and a blood test to determine the presence of the genetic mutation.

Since Kniest Dysplasia is a genetic disorder, it is almost impossible to prevent them. There is no way that one can control or stop the development of the genetic mutation in a fetus.

If one needs to prevent the spread of such disorder in future generations, they need to consult a doctor. Medical experts will help you to analyze the presence of an inactivated form of the genetically mutated gene. Also, if possible avoid future planning if you are aware of the results.

Summary: There is no way that one can prevent genetic mutation. However, one can prevent the spread by avoiding future planning in such circumstances.

If the infant or child is showing signs of Kniest Dysplasia it is important to seek medical attention as soon as possible. Delay in the detection of treatment can worsen the case for the patient, resulting in critical health conditions or death.

Summary: It is important to look for medical care in case a person is diagnosed with Kniest Dysplasia.

Genetic disorders like Kniest Dysplasia do not go away on their own. Since they have inherited in a person by their parents, the genetic mutation became a part of the patient's body. This makes the abnormal development of bones familiar to the immune system making it impossible to go away on its own.

Summary: Kniest Dysplasia does not go away on its own due to its nature and source of occurrence.

The treatment of Kniest Dysplasia mainly focuses on controlling the damage caused by a mutated gene. It involves a group of doctors as the disease affects only one part of the body. That also means it will include many therapeutic, surgical, and non-surgical methods to treat the patient.

Summary: The treatment of medical conditions like Kniest Dysplasia is mainly directed to health management as the effects of the disease are irreversible in nature.

The Diet of the Kniest Dysplasia patient is directed towards the overall wellness of the body. There is no specific diet that can help you decrease the effects of genetic mutation in the body. However, you can consult your medical professional about suitable diet plans.

Summary: Kniest Dysplasia cant be managed by your food intake. Consult your doctor to know the best diet plan for the patient.

No specific restrictions have been lined out for the patient in order to enhance the treatment. Consult your doctor to know a suitable diet plan for you.

Summary: No specific food guidelines have been released so far to prevent the effects of Kniest Dysplasia.

The effects of treatment suggested for Kniest Dysplasia rely on the composition of the medication your doctor prescribed including the treatment that your doctor is using to treat the medical condition.

Summary: No specific side effects are associated with Kniest Dysplasia treatment. connect to your doctor as soon as possible in case of any reaction from the current treatment plan.

Yes, it is important to seek immediate medical attention in order to have an early diagnosis and treatment of the disease. This will help the doctor to control the effects at early stages and prevent the formation of life-threatening conditions for the patient.

Summary: Seek medical aid on an urgent basis is important if you have been diagnosed with Kniest Dysplasia.

Genetic disorders don't come with any recovery period. This is because the illness itself is a part of the body that cannot be removed or killed. The patient needs the course of treatment for the rest of their lives to maintain adequate health.

Summary: There is no recovery period that can rule out genetic disorders like Kniest Dysplasia.

Depending on the treatment plan, the cost of Kniest Dysplasia treatment includes consultation of different doctors, medications, non-surgical and surgical methods. Collectively the overall cost of the whole treatment can reach approximately 10-12 lakhs per annum.

Summary: Treatment cost of Kniest Dysplasia may start from 1000( consultation) and go up to 10 lakhs per year.

Physical activities will be limited to the patient with Kniest Dysplasia. This is because of two reasons. Firstly the abnormal growth of the bones will not allow you to make normal body movements. Secondly, more physical activity will increase the damage of wear and tear which can be dangerous for the health of the patient.

Summary: Physical exercise or activity will be limited as it will increase the risk of damage to the abnormal fragile structure of the body.

Kniest Dysplasia treatment includes many surgical and non-surgical procedures which focus on the better movement of the joints and relief from the discomfort caused by the genetic mutation. To know more about the exact course of medication consult your doctor.

Summary: Medication associated with Kniest Dysplasia focuses on disease management.

All types of genetic disorders like Kniest Dysplasia are irreversible in their nature of existence. So it is not possible for medical science to cure the illness completely. But there are certain treatment plans available for the patient that can help you manage the damage of the disease.

Summary: Kniest Dysplasia does not have a permanent cure. So any treatment that will be used to manage the disease will have temporary effects.

There is no fixed treatment plan that can be used to cure genetic abnormalities like Kniest Dysplasia. This also states that there is no alternative present for the current treatment plan.

Summary: At present, there is no alternative that can replace the current treatment plan of the disease.

Individuals with the inheritance of active mutated genetic COL2A1 are eligible for the treatment. Also, people with the same set of symptoms can also choose the same type of treatment plan.

Summary: People with the same signs or inheritance of the COL2A1 gene are eligible for the Kniest Dysplasia treatment plan.

Individuals with the inheritance of deactivated mutated genetic COL2A1 are not eligible for the treatment. Also, people with different sets of symptoms can also avoid this treatment plan.

Summary: People with different signs or inheritance of the inactivated COL2A1 gene are not eligible for the Kniest Dysplasia treatment plan.

There is no cure for a clinical illness like Kniest Dysplasia, so the treatment will continue as long as the person survives. There are no post-treatment guidelines that need to be followed by the patient.

Summary: There are no post-treatment guidelines that can be designed to be followed by the patient with Kniest Dysplasia.

Summary: Kniest Dysplasia is a genetic manipulation that results in abnormal development of bond structure causing dwarfism. It is an autosomal dominant form of genetic disorder caused by inherited development of mutation of the COL2A1 gene. One can see the signs developing at the infancy stage only. There is no cure for the disease so far, however medical professionals will help you manage and control the damage caused by genetic abnormalities.