Dubowitz Syndrome: Causes, Symptoms, Complications, And Treatment

Discovered in 1965 Dubowitz Syndrome infrequent genetic mutation. It is so rare in occurrence that only 150-200 patients have been found since then. The root cause of disorders like this is still unknown, however, scientists suspect NSUN4 and LIG4 genes as key culprits. The symptoms of the disorder are quite diverse.

One can diagnose the presence of mutation during the pregnancy itself. They also show abnormalities in sex organs which can be from the outside the surface of the penis/ vigna.

There is no cure for genetic disorders so far, however, one must consult their doctor in order to get an accurate diagnosis and treatment to get relief from the damage.

Summary: Dubowitz Syndrome is a genetic disorder that gets inherited in humans at the time of fetal stage itself. It mutates different parts of the body which can be both physical and mental.

The symptoms of Dubowitz Syndrome are quite vast. Since there is no specific reason behind this genetic mutation it is hard to diagnose the presence of disease in an individual body. However, growth retardation is one of the main things that is common amongst all the patients of Dubowitz Syndrome.

They have small and slow growth of the physical body. Also, the symptoms can be seen at the time of pregnancy. So here is the list of symptoms that one can look for in case of:

• Microcephaly
• Micrognathia
• Eczema
• Narrow or triangle-shaped face
• High or sloping forehead
• Hypoplastic supraorbital ridges
• Hypertelorism
• Ptosis
• Blepharophimosis
• Sparse hair and eyebrows
• Large ears
• Arched palate
• Farsightedness
• Cataracts
• Hypotonia
• Clinodactyly
• Vertebra
• Anaemia
• High pitched voice
• Underdeveloped organs
• Leukemia
• Lymphomas
• Neuroblastoma
• Myosarcoma
• Sarcomas

Summary: The symptoms of Dubowitz Syndrome are hard to diagnose because of the unknown nature of the genetic mutation. They can affect the person on both mental and physical levels.

The root cause is somewhat discovered. While some cases still come under the unidentified cause of disease, others come under the mutation of NSUN4 and LIG4 genes. There is no specific reason why this form of abnormality develops in an individual gene.

Genetic deformities of this type come under the category of autosomal recessive disease. They can only be developed if the person has inherited faulty genes from one or both of their parents. This can also happen if one copy of the gene is dominant and one copy is recessive.

The chances of getting affected by the genetic mutation can be different, for example, there is a 25% chance that a child may turn out to be normal with no mutation whatsoever or become get affected with two recessive genes, but in this case, there is a 50% chance that the offspring will become a carrier of the disease with no such medical condition.

Summary: The reason behind this genetic mutation is still under research. While some cases come under the mutation of NSUN4 and LIG4 genes, others are still unknown to the advancement of medical science.

Since there is no specific reason which can indicate the presence of this genetic mutation in your or your child’s body. The presence of a genetic disorder without any family background or medical records is not possible.

While some of the symptoms like a short head and an underdeveloped body can be seen before birth, other external signs can only be identified at the time of birth. One can see these symptoms on the surface without any medical diagnoses.

So at first, the medical professional will start with a physical examination, followed by medical history and family background. The second section of the diagnosis includes a genetic testing registry which helps the doctor to detect the presence of a mutation in NSUN4 and LIG4 genes.

Summary: Your doctor will check your medical, and family history alongside your current prognosis of the symptoms to have a complete diagnosis of the disease like Dubowitz Syndrome.

Scientists are still working on the cure of genetic abnormalities like Dubowitz Syndrome. So at the current point, there is no way that one can treat or prevent the disease from happening. One thing that can be done is avoid any form of family planning or reproduction with people who have genetic mutations like Dubowitz Syndrome.

Summary: Dubowitz Syndrome is genetic in its occurrence, making it hard to treat and prevent in an individual.

Immediately consult your nearest medical aid if your child has been diagnosed with Dubowitz Syndrome. The disease can cause critical damage to the patient if not taken care of on time.

Summary: If not addressed on time, dubowitz syndrome can cause serious damage and even death of the patient.

There are many diseases that can go away on their own but not Dubowitz Syndrome. This is because the disease alters an individual gene that cannot be reversed or treated with today’s medical advancements.

Since the genetic mutation is irreversible in nature, the treatment plan associated with Dubowitz Syndrome generally focused on its control. Each symptom has a different effect on an individual so the doctor will give you different solutions of it, some of them are:

• Corticosteroid creams are for eczema.
• Glasses or contact lenses for better vision.
• Surgery to remove clouding of the eye lens (Cataracts), skeletal abnormalities, and facial deformities.
• Extra growth hormone supplements.
• Occupational therapy, and behavioural therapy to deal with psychological issues.

Summary: A treatment plan designed to treat this medical condition has not been found yet. So your doctor will provide you treatment plans that will be oriented to its management.

Dietary habits do not cause much damage to the body in the case of Dubowitz Syndrome. So there is no set diet that you can take, but you can always consult your doctor for better knowledge of your nutrition needs.

Consult your doctor in case you feel allergic or have physical discomfort after eating certain foods with or without medical treatment.

There are no fixed side effects that have been seen amongst the patients of Dubowitz Syndrome. However, if you find any physical problem under the course of treatment, talk to your medical healthcare professional immediately.

Summary: Treatment plan designed under genetic conditions such as Dubowitz Syndrome has not been well researched.

DNA mutations like Dubowitz Syndrome keep on developing inside your body until it causes an individual death. So it’s crucial to give immediate attention to the patient.

Summary: Yes, in case of identical symptoms, seek medical professional help for early detection and treatment.

The recovery period under the case of Dubowitz Syndrome has not been well established. This is because the disease directly affects an individual DNA making it a part of human functioning.

Summary: The recovery period for genetic disorders like Dubowitz Syndrome cannot be set onto a timeline. This is because of its nature which makes it mutate in the human body since its fetal stage.

The cost of the treatment includes consultation, medication, surgical procedures consulted by your doctor. The total cost of the treatment depends on how long it goes from 7- 10 lakh per year. Where you can expect 30% of the income spent on consultations and the rest of it on tests, medications, and surgical treatment.

Summary: Medication, surgery, consultation, test and other forms of treatments cost may fluctuate on the basis of location or type of medical specialist.

Since the disease mostly affects an individual during fetal, infancy, and childhood stages; no set of physical exercises can be suggested. However, you can reach out to your doctor to know any exercise that is good for your child.

Summary: Dubowitz Syndrome treatment does not have any associations with physical fitness. But it is important to avoid any further medical complications.

Each case of Dubowitz Syndrome has its own unique nature because each individual has a unique DNA structure. So the medications that will be prescribed under this condition will depend on each case. In short, there are no particular medications that can help you with Dubowitz Syndrome.

Summary: No particular set of medication has been designed to cure Dubowitz Syndrome.

Results of the treatment cannot be permanent for Dubowitz Syndrome. It mutates the very own DNA which cannot be cured, replaced, or removed.

Summary: Since the nature of the Dubowitz Syndrome is genetic, the results of the treatment cannot be permanent.

The treatment plan for Dubowitz Syndrome does not have any fixed guidelines so there is no valid alternative that can be chosen over the current methods.

Summary: No alternatives of the treatment for Dubowitz Syndrome is present at the movement.

Individuals with confirmed diagnoses of Dubowitz Syndrome are qualified for the treatment.

Patients with different diseases than Dubowitz Syndrome are not suitable for the treatment.

Treatment of Dubowitz Syndrome is a lifetime process so there is no end or post time of the treatment.

Summary: Discovered in 1965 Dubowitz Syndrome is a genetic disorder rare in its occurrence. The root cause of disorders like this is still unknown, however, scientists suspect NSUN4 and LIG4 genes as key culprits. Most of the symptoms associated with this genetic disorder are physical and can be seen on the surface of the skin. There is no specific cure designed to cure the disease, but the treatment plan will help you slow down the damage caused by Dubowitz Syndrome.