Verma-Naumoff Syndrome

Verma-Naumoff Syndrome

Verma -Naumoff syndrome belongs to a group of congenital disorders characterized by malformations of bone and cartilage tissue. The prognosis of the disease is always fatal. The syndrome is genetic and inherited in an autosomal recessive manner.

What is Verma-Naumoff Syndrome?

Verma -Naumoff syndrome is a genetic disease of bone and cartilage tissue. It is characterized by a variety of malformations of internal and external organs. The course of the disease is always fatal. The large number of malformations is not compatible with life. The syndrome can be detected prenatally by sonography. The child is either born as a stillbirth or dies immediately after birth due to the many dysplasias. For all you need to know about gastric laryngitis, please visit phonecations.com.

According to the definition, the disease belongs to the group of congenital osteochondrodysplasias. This is a group of genetic diseases characterized by dysplasia (malformations) in bone and cartilage tissue. Within these diseases, the Verma-Naumoff syndrome is counted among the so-called short-rib polydactyly syndromes. As the name suggests, these syndromes are characterized by short ribs, underdeveloped lungs, and multi-fingeredness ( polydactyly ).

The constricted thorax is noticeable through insufficient lung function. The syndrome was first described in 1974 by the Mainz pediatrician J. Spranger. However, he did not yet distinguish it from similar forms of the disease. Only IC Verma (1975) and P. Naumoff (1977) differentiated the syndrome from short-rib polydactyly syndrome type I (Saldino-Noonan syndrome).

Since then, according to the international classification, it has been called type III short-rib polydactyly syndrome or Verma-Naumoff syndrome. According to morphological-radiological criteria, a further classification into short-rib polydactyly syndrome II type Verma-Naumoff was made.

Causes

The only known cause of Verma-Naumoff Syndrome is that it is a genetic disorder that is inherited in an autosomal recessive manner. Many other congenital chondrodystrophies are caused by gene mutations in a specific area of ​​chromosome 4. It is therefore reasonable to assume that mutations are also present in this section in the Verma-Naumoff syndrome.

It is not known whether only one gene is affected or whether several mutated genes cause similar symptoms. In any case, an autosomal recessive inheritance was determined, which is not limited to just one gene. In similar diseases, such as Ellis-van-Creveld syndrome, at least two adjacent genes have been discovered that can lead to the same disorder.

After the autosomal recessive inheritance, the disease can only occur if both parents have the mutated gene heterozygous in their genome. However, there is no information about the frequency of the disease. There may be a larger number of unreported cases due to miscarriages.

Symptoms, Ailments & Signs

The clinical picture of the Verma-Naumoff syndrome is diverse. Like all short-rib polydactyly syndromes, it is characterized by short ribs with thoracic hypoplasia, hypoactive lungs, and respiratory failure. There is also dysplasia of the long bones and often polydactyly (many fingers).

In addition, hydrops (dropsy) is common in Verma-Naumoff syndrome, with accumulation of water in the chest. Breathlessness is also a key symptom of the disease. Polydactyly does not always occur. It only occurs in 50 percent of cases. Other symptoms are closely related to the complex heart defects. A short intestine is also characteristic. In addition, there is a disorder of the rotation of the small intestine and large intestine, which is called malrotation.

This malrotation can lead to intestinal obstruction. Another feature is anal atresia. Here the rectum is malformed, with the opening to the anal pit missing. Atresia of the urethra is also observed. In this case, the opening at the end of the urethra is absent. The kidney is often underdeveloped or not functioning at all. There are also deformities in the genitals. A cleft lip and palate (cheilognathopalatoschisis) can also occur.

The epiglottis (larynx lid) often shows deformities. There is also esophageal atresia. There is either no connection between the esophagus and the stomach or the esophagus is narrowed. The esophagus may also connect to the windpipe instead of the stomach. Overall, the deformities are so serious that the child has no chance of survival.

Diagnosis & course of disease

Verma-Naumoff Syndrome can be diagnosed in the womb. The x-ray shows short ribs. Compared to Saldino-Noonan syndrome, the long bones are jagged at the ends and not as shortened. The diagnosis can be made by sonography alone. Other imaging procedures such as CT and MRI can confirm the diagnosis.

Complications

Patients with Verma-Naumoff syndrome primarily experience breathing difficulties. Respiratory insufficiency occurs, so that the internal organs are no longer supplied with sufficient oxygen. This can turn the skin blue.

If the disease is not treated, the internal organs and the brain can be permanently damaged. Various heart defects also occur, which in the worst case can lead to the death of the person concerned. There are also complaints in the small intestine and the large intestine, so that those affected often suffer from pain or diarrhea. Intestinal obstruction is also common among those affected.

Since the kidneys can also be affected by malformations, those affected need a transplant or are dependent on dialysis. Various malformations also generally occur on the body, which make everyday life of those affected significantly more difficult. As a rule, the child dies a few days after birth and cannot survive. The Verma-Naumoff syndrome can also lead to severe psychological problems and depression in the parents or relatives. They are therefore dependent on psychological treatment.

When should you go to the doctor?

The person affected with Verma-Naumoff syndrome is always dependent on treatment by a doctor. Since this disease cannot heal on its own, a doctor should always be contacted as soon as the first symptoms and signs of the syndrome appear. The earlier the disease is recognized and treated by a doctor, the better the further course is.

A doctor should be contacted if the person concerned suffers from breathing difficulties. Not enough air enters the lungs, causing the patient to cough. In many cases, this also turns the skin blue, with some sufferers even losing consciousness. Heart defects also point to the Verma-Naumoff syndrome. Those affected also suffer from deformities in the face or head, which can also indicate this disease.

Verma-Naumoff syndrome can be detected by a pediatrician or a general practitioner. Further treatment depends on the exact type and severity of the symptoms, so that no general prediction can be made. In many cases, this syndrome reduces the life expectancy of those affected.

Treatment & Therapy

There is no treatment option for Verma-Naumoff syndrome. The course of the disease is 100 percent fatal. The child is often born dead or dies shortly after birth. In the group of osteochondrodysplasias, however, there are also diseases that cannot be cured, but at least offer a chance of survival.

In each syndrome, the symptoms are sometimes variable. It is currently not known whether there are different forms of the Verma-Naumoff syndrome that also have a chance of survival.

Prevention

It is not possible to prevent Verma-Naumoff syndrome. The syndrome is a genetic disease that is inherited in an autosomal recessive manner. It is therefore very unlikely that the disease will occur spontaneously. For the syndrome to break out, both parents must have the mutated gene. If one or more cases of illness have already occurred in the family, a human genetic counseling should be used.

Aftercare

As a rule, those affected by Verma-Naumoff syndrome only have very few and only very limited measures of direct aftercare available, so that in the case of this disease, a doctor should first and foremost be consulted as early as possible so that it does not occur later on complications or other problems occur. As a rule, it cannot heal on its own, so ideally a doctor should be contacted as soon as the first symptoms and signs of this disease appear.

Since this disease is a hereditary disease, it cannot be completely cured. Therefore, if the person concerned wants to have children, they should seek genetic testing and counseling to prevent the disease from recurring in their descendants.

In general, those affected depend on the help and support of their own families in everyday life. Loving and intensive conversations can also have a very positive effect on the further course and prevent the development of depression and other psychological upsets. Verma-Naumoff syndrome may reduce the life expectancy of those affected.

You can do that yourself

The Verma-Naumoff syndrome cannot yet be treated. The child dies before or during birth due to various malformations. The child’s parents can use talk therapy to process the trauma. Self-help groups and online forums are suitable places to talk to other people affected.

Visiting a specialist center for hereditary diseases is also a good idea. The better the understanding of the disease, the easier it is usually to process a severe course. The usual measures also apply after the birth.

Sexual intercourse should be avoided until the weekly flow stops. During the first few days, good hygiene must be observed to avoid infections in the area of ​​the vaginal tract. In addition, the bandage should be changed frequently to avoid inflammation of the episiotomy scar. Pelvic floor exercises stimulate blood flow to the pelvic floor area, resulting in faster recovery.

Finally, a healthy diet with adequate protein, vitamins, and plenty of fluids will aid in recovery. Sufficient rest and protection contribute to the healing process and ensure that the mother of a sick child can recover quickly despite the trauma.

Verma-Naumoff Syndrome