Nager Syndrome: Symptoms, Causes, Treatment, Cost and Side Effects

Falls under the category of acrofacial dysostoses or AFDs, Nager Syndrome is a genetic disorder that causes deformation of craniofacial, preaxial, and limb of the affected person. The development of this syndrome is visible in the congenital stage itself. This means deformities in the physical body can be traced during the fetal or neonatal period.

The nature of this mutation is autosomal dominant. It makes it more dangerous as this form of mutation only needs one active/inactive partner to pass the abnormality.

Summary: Nagar syndrome is a genetic abnormality that causes craniofacial, preaxial, and limb deformation.

Most symptoms that are connected to the genetic abnormality are physical in nature, which means they are clearly visible to anyone. To identify the pre-existence of the disease in the infant, mention below some signs:

• Malar hypoplasia
• Micrognathia
• Cleft palate
• Velopharyngeal insufficiency
• Choanal atresia
• Downward-slanting palpebral fissures
• Colobomas
• Ptosis
• Extended scalp hair to the cheek
• Temporomandibular joint dysfunction (TMJD)
• Malocclusion
• Triphalangeal thumbs
• Radius
• Syndactyly
• Camptodactyly
• Radioulnar synostosis
• Phocomelia
• Underdeveloped or absent toes, thumbs, and eyelashes
• Webbing of the toes
• Clubfeet
• Hallux valgus
• Diaphragmatic hernia
• Underdevelopment of the larynx and first rib
• Scoliosis
• Hip dislocation

Summary: Symptoms of Nager Syndrome are mostly seen on the face, thumbs, and toes. While most cases have a healthy life some may experience heart or kidney illness due to internal dysfunction.

The root cause of the disease is a hereditary mutation in the SF3B4 gene. This gene controls the function of the group of proteins. This group is responsible for many bodily functions. Mutation of this gene causes unusual activity in the production of the proteins. This often results in faulty, inefficient, or absence of proteins in different sections of the body.

Furthermore, the nature of such a mutation is autosomal dominant. This means it only needs one active/inactive abnormal genetic imprint from any one of the biological parents. Even if the active form of the genetic imprint is not present in the parents, there is a 50-50 chance that it might pass on to the offspring.

Summary: Mutation in the SF3B4 gene is responsible for the development of Nager Syndrome in an individual. The gene is responsible to control a group of proteins responsible for different physical processes.

The diagnosis of Nager Syndrome starts from the analysis of medical and family history. Once your medical professional finds evidence of genetic mutation, they conduct molecular genetic testing. This test will confirm the presence of a mutation in the SF3B4 gene.

Also, different screening and blood tests will be conducted on the patient to analyze the internal functions.

Summary: Diagnoses of Nager Syndrome are focused on confirming the presence of the mutated gene and taking a check-up of the internal functioning of the body.

Nager Syndrome is a genetic disorder that can only be prevented if any member of the same bloodline avoids reproduction. It is an autosomal dominant condition that can mutate the gene of the offspring even if you don't have it. So except for birth control, one cannot prevent the development of the illness in future generations.

Summary: Medical science is still working on an effective preventive method to avoid the mutation of genes responsible for Nager Syndrome.

It is important to consult your medical professional under such circumstances. Nager Syndrome can develop life-threatening conditions if not managed on time. But since most symptoms of this genetic mutation are external and can be seen at the neonatal stage, it can be traced at the time of birth only.

Summary: If you can see one or more symptoms of the genetic disorder in the child, contact your medical professional on an urgent basis.

A genetic disorder cannot go away on its own. It became a part of your internal system making it irreversible or impossible to eliminate. So it's important to get medical aid as soon as you detect the presence of Nager Syndrome.

Summary: No, Nager Syndrome cannot go away on its own due to its nature of inheritance.

The treatment of genetic disorders like Nager Syndrome needs a team of medical professionals to deal with the mutation in different parts of the body. Professionals like audiologists, otologists, ophthalmologists, pediatric otolaryngologists, paediatricians, oral surgeons, plastic surgeons, psychologists, etc.

the treatment plan will include many surgical and non-surgical methods. While surgeries are used in the reconstruction of the abnormal physical structure. Medications and therapies are used to manage the damaging effects of the genetic disorder.

Summary: Treatment of Nager Syndrome includes various surgical and non-surgical procedures.

No specific diet plan can help you decrease the damage caused by this genetic mutation in the body. Take the advice of your doctor to know about the diet Nager Syndrome. For infants, one must consult the doctor to know the conventional method of feeding the baby.

Summary: Specific diet plans are not yet designed for genetic disorders like Nager Syndrome.

No specific diet has been designed to enhance the treatment of this genetic mutation. Talk to your doctor to know about the diet for the younger or older patients with Nager Syndrome.

Summary: Specific diet plans are still under the shade for genetic disorders like Nager Syndrome.

Side effects of the treatment plan associated with Nager Syndrome depend on medical composition therapeutics and surgical procedures. The side effects of the treatment plan vary with each patient as it is not set on course set so far. If you experience any sort of discomfort after taking treatment, contact your doctor as soon as possible.

Summary: Repercussions of the treatment plan depending on individual symptoms, medical composition, and surgical methods used to treat the disease.

Genetic diseases like Nager Syndrome have the capacity to worsen your health. So it's crucial to go for medical help as soon as possible as the damage caused by Nager Syndrome is irreversible.

Summary: Yes, early detection and treatment can help you manage the disease better.

No set recovery period can be concluded as Nager Syndrome is a genetic disorder. This form of autosomal dominant illness keeps on damaging the body throughout life.

Summary: Nager Syndrome is a lifelong disease that cannot have any set recovery period.

The price of Nager Syndrome includes consultation of different doctors, medications, surgery, and post-surgery treatment. Treatment of genetic disorders like Nager Syndrome can be expensive due to lack of facilities. It can vary from 10 thousand to 2 lakhs per month as per the symptoms and needs.

Summary: The price of Nager Syndrome can be very expensive in India. It can vary from 10 thousand to 2 lakhs per month.

Nager Syndrome causes less effect on physical strength. While your craniofacial, preaxial, and limb are the affected area, most of your body is functioning adequately to indulge in mild physical activity. You can have mild to moderate physical activity as per your doctor’s advice.

However, any form of physical activity will not help you enhance the treatment, it only helps you keep your body healthy.

Summary: Mid physical exercise can help you keep fit but it does not have any contribution to the treatment of Nager Syndrome.

There is no specific course of medication that has permanent effects on Nager Syndrome. The therapeutics will be clubbed as per each individual symptom, surgery, and medical history. Make sure to tell your doctor about your allergies from any compound that might be present in your medications.

Summary: Managing Nager Syndrome is quite difficult. Expert consultation is needed to manage the symptoms. However, there are no specific medicines available that can help in treating or curing the disease.

The results of any treatment used for Nager Syndrome cannot have permanent results. This is due to the damage caused by this genetic abnormality being irreversible cannot be cured. The disease can only be controlled by various methods of treatment.

Summary: Nager Syndrome treatment results can not have permanent results. This is because of the nature of the disease.

No alternatives are present at the current point to treat Nager Syndrome. However one can always consult their medical professional to know about alternatives of the compounds present in the medication. Acquire knowledge about your allergies before starting any course of medication.

People who are suffering from Nager Syndrome are eligible for the treatment. Also one can choose elements of the treatment plan if they experience some of the symptoms but with a different cause.

Summary: People suffering from one or more symptoms of Nager Syndrome are eligible for the treatment.

People who are not suffering from Nager Syndrome are not eligible for the treatment. Also, other medical conditions with different symptoms are also not eligible cases for the Nager Syndrome treatment.

Summary: People who are not suffering from Nager Syndrome are not eligible for the treatment.

Since there is no cure for Nager Syndrome the treatment will go as long as the person survives. So the only strict guideline for the patient is to follow your prescription seriously.

Summary: Due to the irreversible nature of the disease, there is no cure for the disease which means there cannot be any post-treatment guidelines to follow.

Summary: Nager Syndrome is a hereditary condition that causes distortion of the affected person's craniofacial, preaxial, and limb structures. The progression of this illness can be seen in the congenital stage. Nager Syndrome is diagnosed via molecular genetic testing to establish the existence of the SF3B4 gene mutation. The permanent treatment strategy is still being researched by scientists. Therefore, it is not treatable.