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 lethal. The syndrome is genetic and is inherited in an autosomal recessive manner.
What is Verma-Naumoff syndrome?
Verma-Naumoff syndrome is a genetic disorder 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 lethal. The multitude of malformations is not compatible with life. Already prenatally the syndrome can be detected by sonography. The child is either born stillborn or dies immediately after birth due to the many dysplasias. According to the definition, the disease belongs to the group of congenital osteochondrodysplasias. This is a group of genetic disorders characterized by dysplasias (malformations) in bone and cartilage tissue. Within these disorders, Verma-Naumoff syndrome is included in the so-called short rib polydactyly syndromes. As the name implies, these syndromes are characterized by short ribs, underdeveloped lungs, and polydactyly. The constricted thorax is noticeable by inadequate lung function. The syndrome was first described in 1974 by J. Spranger, a pediatrician from Mainz. However, he did not distinguish it from similar forms of the disease. Only I. C. Verma (1975) and P. Naumoff (1977) distinguished the syndrome from the short rib polydactyly syndrome type I (Saldino-Noonan syndrome). Since then, it has been referred to as short-rib polydactyly syndrome type III or Verma-Naumoff syndrome according to the international classification. According to morphologic-radiologic criteria, another classification was made as short-rib polydactyly syndrome II type Verma-Naumoff.
Causes
All that is known about the cause of Verma-Naumoff syndrome is that it is a genetic disorder inherited in an autosomal recessive manner. Many other congenital chondrodystrophies are caused by gene mutations in a specific region of chromosome 4. Therefore, it is reasonable to assume here that mutations in this section are also present in Verma-Naumoff syndrome. Whether only one gene is affected or multiple mutated genes cause similar symptoms is not known. In any case, an autosomal recessive mode of inheritance has been identified, but it need not be limited to one gene. In similar disorders, such as Ellis-van Creveld syndrome, at least two juxtaposed genes have been discovered that can lead to the same disorder. According to the autosomal recessive mode of inheritance, the disease can only occur if both parents have the mutated gene heterozygously in their genome. However, there is no knowledge about the frequency of the disease. It is possible that a larger number of unreported cases still exist due to miscarriages.
Symptoms, complaints, and signs
The clinical picture of Verma-Naumoff syndrome is multifaceted. Like all short rib polydactyly syndromes, it is characterized by short ribs with thoracic hypoplasia, pulmonary hypofunction, and respiratory insufficiency. Furthermore, there is dysplasia of the long bones and often polydactyly (polydactyly). In addition, hydrops (dropsy) is often found in Verma-Naumoff syndrome, with accumulation of water in the chest. Furthermore, respiratory weakness is a leading symptom of the disease. Polydactyly does not always occur. It occurs in only 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 disturbance of the rotation of the small intestine and colon, which is called malrotation. This malrotation can lead to intestinal obstruction. Another characteristic is anal atresia. Here, the rectum is malformed, lacking the opening to the anal fossa. Atresia of the urethra is also observed. In this case, the opening at the end of the urethra is missing. The kidney is often underdeveloped or not functional at all. Furthermore, malformations also occur in the genitalia. Cleft lip and palate (cheilognathopalatoschisis) may also occur. The epiglottis (laryngeal cover) often shows malformations. In addition, there is esophageal atresia. Either the connection of the esophagus to the stomach is missing or the esophagus is narrowed.It is also possible that the esophagus is connected to the trachea instead of the stomach. Overall, the malformations are so severe that there is no chance of survival for the child.
Diagnosis and course of the disease
Verma-Naumoff syndrome can be diagnosed in the womb. The x-ray shows short ribs. Compared with Saldino-Noonan syndrome, the long bones are jagged at the end and not as shortened. The diagnosis can be made by sonography alone. Other imaging modalities such as CT scan and MRI can confirm the diagnosis.
Complications
As a result of Verma-Naumoff syndrome, the patient primarily experiences respiratory symptoms. Respiratory insufficiency occurs, so that the internal organs are also no longer supplied with sufficient oxygen. As a result, the skin may turn blue. If the disease is not treated, the internal organs and also the brain can be permanently damaged. Furthermore, various heart defects occur, which in the worst case can lead to the death of the affected person. Likewise, the small intestine and also the large intestine are affected, so that the affected person often suffers from pain or diarrhea. Intestinal obstruction is also common in those affected. Since the kidneys can also be affected by malformations, those affected require a transplant or are dependent on dialysis. Various malformations also generally occur on the body, making the affected person’s daily life much more difficult. As a rule, the child dies a few days after birth and cannot survive. Verma-Naumoff syndrome can also cause severe psychological discomfort and depression in the parents or relatives. These are therefore dependent on psychological treatment.
When should you see a doctor?
The affected person is always dependent on treatment by a doctor for Verma-Naumoff syndrome. Since there is no independent cure for this disease, a doctor should always be contacted at the first symptoms and signs of the syndrome. The earlier the disease is detected and treated by a doctor, the better the further course is usually. A doctor should be contacted if the affected person suffers from breathing difficulties. In this case, not enough air enters the lungs, causing the patient to cough. In many cases, this also causes the skin to turn blue, and some sufferers may even lose consciousness. Furthermore, heart defects also indicate Verma-Naumoff syndrome. Affected individuals also suffer from deformities of the face or head, which may also indicate this disease. Verma-Naumoff syndrome can be detected by a pediatrician or a general practitioner. Further treatment depends on the exact nature and severity of the symptoms, so no general prediction can be made. In many cases, this syndrome reduces the life expectancy of the affected person.
Treatment and therapy
There is no treatment option for Verma-Naumoff syndrome. The course of the disease is 100 percent lethal. Often the child is born dead or dies shortly after birth. In the group of osteochondrodysplasias, however, there are certainly diseases that are not curable, but at least offer a chance of survival. In each syndrome, the symptoms are also variable to some extent. Whether there are different forms of expression for Verma-Naumoff syndrome in which there is also a chance of survival is currently unknown.
Prevention
Prevention of Verma-Naumoff syndrome is not possible. The syndrome represents a genetic disorder that is inherited in an autosomal recessive manner. Therefore, spontaneous occurrence of the disease is also very unlikely. For the syndrome to occur, both parents must have the mutated gene. If one or more cases of the disease have already occurred in the family, human genetic counseling should be sought.
Follow-up
As a rule, only very few and also only very limited measures of direct aftercare are available to the person affected with Verma-Naumoff syndrome, so that in the first instance a doctor should be consulted as early as possible in the course of this disease, so that complications or other complaints do not arise in the further course.As a rule, the disease cannot be cured on its own, so ideally a doctor should be contacted at the first symptoms and signs of this disease. Since this disease is hereditary, it cannot be completely cured. Therefore, if the affected person wishes to have children, he or she should seek genetic testing and counseling to prevent the recurrence of the disease in descendants. In general, affected persons are dependent on the help and also the support of their own family in their daily lives. In this context, 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. Possibly, Verma-Naumoff syndrome reduces the life expectancy of the affected person.
Here’s what you can do yourself
Verma-Naumoff syndrome cannot be treated until now. The child dies before or during birth because of the various malformations. The child’s parents can use talk therapies to help them work through the trauma. Self-help groups and forums on the net are suitable places to talk to other affected persons. A visit to a specialist center for hereditary diseases is also a good idea. The better the disease is understood, the easier it is, as a rule, to come to terms with a severe course of the disease. Accompanying measures apply after the birth. Sexual intercourse should be avoided until the postpartum flow stops. During the first few days, good hygiene must be maintained to avoid infections in the vaginal tract. In addition, the pad should be changed frequently to avoid inflammation of the episiotomy scar. Pelvic floor exercises stimulate blood flow to the pelvic floor area, which makes recovery faster. Lastly, a healthy diet with adequate protein, vitamins and plenty of fluids helps with recovery. Sufficient rest and sparing contribute to the healing process and ensure that the mother of a sick child recovers quickly despite the trauma.
