DOOR Syndrome: Causes, Symptoms, Complications, And Treatment

DOOR is a short form of four elements namely deafness, onychodystrophy, osteodystrophy, and mental retardation. Deafness is due to genetic damage caused to the ear or auditory nerve, Onychodystrophy stands for the abnormal formulation of the nails, Osteodystrophy means a malfunction of the bones and lastly, retardation means mental abnormalities which can lead to brain seizures.

It is an infrequent genetic mutation that is recessive in its nature. It is also a congenital disease which means the effects of the genetic malfunction start from the birth itself. Most of the symptoms associated with DOOR syndrome are physical and can be seen without any medical diagnosis.

Summary: DOOR is a genetic disorder that leads to deafness, onychodystrophy, osteodystrophy, and mental retardation. They are physical in nature and can cause serious liver conditions.

Since the genetic disorder is a group of four major diseases, its symptoms are quite diverse in their nature. Here is the list of symptoms that one can look for in the newborn to identify the presence of DOOR Syndrome:

• Congenital deafness of both ears
• Delays in achieving general milestones
• Generalized stiffening of muscles
• Misshapen, discolored, underdeveloped, or rudimentary nails
• Abnormal largeness of the bones
• Loss of consciousness
• Seizures
• Presence of extra bones known as triphalangeal
• Underdevelopment or absence of the bones present in fingers and toes
• Dermatoglyphics
• Uncontrollable jerking of muscle groups

Summary: The symptoms of DOOR Syndrome are distinctive in their nature. They affect in both ways- mentally and physically.

The root cause of the genetic mutation is yet to be studied. Medical researchers are looking for the genetic mutations that are responsible for causing DOOR Syndrome. Some researchers suggest it is an autosomal recessive disorder. It signifies if both of the parents inherit the actions of a deactivating form of faulty gene it can transfer into their offspring.

It gets activated in the body of your child during the fetal and infancy stages. This can also happen if one copy of the gene is dominant and one copy is recessive.

Summary: The main cause behind this genetic disorder is still unknown. But some researchers believe that its autosomal recessive nature is responsible for the development of this kind of genetic deformity. It can only be developed under the condition of inheritance by one or both of your parents.

It is not possible to detect its presence in parents as well as the fetus. One can only diagnose the disease only when the child is born. Your medical professional will examine the child and match the symptoms. The newborn will be kept under observation for a few days where the doctors conduct all the testing and medical care.

Summary: The disease is diagnosed by carefully examining the medical history of a person along with the family background. For this, one needs an expert consultant who can detect the disease on time.

Genetic disorders can never be prevented but yes, they can be cured to some extent. Take the help from a medical expert who can diagnose the disorder on time and can suggest you the best possible therapies to reduce the impact of the disease.

Summary: DOOR Syndrome is hard to prevent in an individual. This is because the nature of the disease is genetic which makes it irreversible to cure or prevent.

Consult the doctor and seek the best advice. There are several therapeutic treatments that can relieve you from severe issues. The treatment may include medication, therapy, and other treatments to decrease the discomfort and pain.

Summary: Consult your doctor in case you see one or more symptoms that are associated with DOOR Syndrome.

Diseases like DOOR Syndrome do not go away on their own. It can cause a critical life situation if not treated on time.

Currently, no treatment can cure genetic mutations like DOOR syndrome. But many methods of treatment are available to manage and control the damage caused by the genetic mutation. In the case of DOOR Syndrome, the treatment will be focused on each symptom. It generally includes medications, surgery, therapies for physical and mental wellness.

Summary: The disease can’t be cured due to its nature of inheritance. However, it is advised to seek treatment to control or manage the discomforts caused by the disease.

Genetic disease can’t be averted by following a particular diet plan. Make a wise choice while having a meal. Try to include essential vitamins, minerals, and other nutrients into your diet as recommended by your medical professional.

There is no specific diet designed for DOOR Syndrome. However, you can ask your medical professional if any specific food that you need to avoid during treatment.

The side effects of the treatment may depend on the type of medication your doctor prescribed you alongside the treatment that your doctor is using to treat the medical condition. Since the disease is quite diverse in its effects, the medication can be high in its effectiveness which may feel too strong sometimes.

Summary: There is no specific list of side effects that can be mentioned. This is because medications that are prescribed for genetic mutations are given to control or manage the damage of the disease.

Yes, it is important to seek medical help as soon as possible to know what causes the symptoms and have early detection and treatment of the same. If not controlled or managed on time, it can cause a critical life situation which can also lead to permanent damage to the body or even death.

Summary: Yes, if the surface symptoms match, it is advised to seek medical help as soon as possible for early detection and treatment.

Since there is no spot for a complete cure of an individual in the case of DOOR Syndrome. This is because the nature of the disease is genetic which makes it impossible to reverse.

Summary: There is no set duration for the cure of DOOR Syndrome.

The treatment of DOOR Syndrome includes consultation, therapeutic or surgical treatment, and medication that can support the adequate function of a human body. The total cost that may take to manage the heath under such conditions can sum up to 10 - 20 lac per annum.

Summary: From doctor consultation to surgery the cost of the treatment can sum up to 10 - 20 lac per year.

DOOR Syndrome is a genetic disorder that is inherited by an individual from the time of his/her birth. So there's no physical exercise that can help you treat the medical condition. But you can always ask your doctor how to keep your physical health at a good pace.

Summary: There is no specific physical exercise designed to cure DOOR Syndrome. But one can keep a healthy fitness regime to maintain adequate physical health.

There is no specific medication available for now to cure DOOR Syndrome. But your doctor may give your medications that are suitable to treat your surface symptoms.

Summary: Medication available for DOOR Syndrome is not associated with the cure but focuses on symptom control. Your doctor may give your medications that are suitable to control the symptoms.

It is an irreversible disease as it strictly mutates an individual DNA so, the results of the treatment will eventually fade away if stopped at any point in life. One may relapse if the treatment is postponed on eliminated at any point in time in your life.

Summary: Since the nature of the disease is genetic, the results of the treatment cannot be permanent. It may relapse or have a flare-up in case the treatment stops or pauses for a while.

There is no alternative to the medication or other forms of treatment that are associated with the management of the disease. However, you can always ask your medical professional if you are not satisfied with your current mode of treatment.

Summary: Since there is no specific treatment plan available, your doctor will make one based on your existing symptoms.

People who are suffering from DOOR Syndrome are eligible for the treatment. Also, people with the same set of symptoms mentioned above can consult a doctor for diagnosis and treatment plans.

People who are not suffering from DOOR Syndrome are not eligible for the treatment.

Your doctor can give you the guidelines related to the post-treatment.

Summary: DOOR is a short form of four elements namely deafness, onychodystrophy, osteodystrophy, and mental retardation. Most of the symptoms associated with DOOR syndrome are physical and can be seen without any medical diagnosis. The main cause of the genetic disorder is yet to be studied. There is no specific treatment plan designed to treat this medical condition.