Dorothy FarrarVerma-Naumoff Syndrome
Verma-Naumhoff syndrome is characterized by malformed bone and cartilage tissue. It is a genetic disorder that is passed on in an autosomal recessive inheritance. According to the current state of medical technology, this disease is usually lethal (deadly).
What is Verma-Naumhoff Syndrome?
However, the Verma-Naumhoff syndrome does not only affect the diseased bone and cartilage tissue , but is also characterized by a large number of external and internal malformations. This autosomal recessive inherited disorder is always fatal because the affected children are unable to survive due to the large number of malformations. According to the medical definition, the Verma-Naumhoff syndrome belongs to the group of osteochondrodysplasias. This group is characterized by multiple dysplasias in the bone and cartilage tissue.
Within this group, the Verma-Naumhoff syndrome is assigned to the short-rib polydactyly syndromes. This medical term states that the affected people suffer from shortened ribs, multi-fingeredness (polydactyly) and underdeveloped lungs . The pediatrician J. Spranger from Mainz first described the syndrome in 1974, but without distinguishing it from similar clinical pictures. The delimitation was only made in the following year by IC Verma and in 1977 by P. Naumhoff. They differentiated the present syndrome from short-rib polydactyly syndrome type I (Saldino-Noonan syndrome).
causes
So far, medical research has not been able to conclusively clarify what exactly leads to the disease with the Verma-Naumhoff syndrome. Only the basis of autosomal recessive inheritance is known. A large number of congenital diseases from the group of chondrodystrophies are due to a mutation of chromosome 4. Based on this finding, doctors assume that the Verma-Naumhoff syndrome also goes back to this mutation.
It is not known whether only one gene is affected or whether there is a mutation in several genes that causes similar complaints and symptoms. This question stems from the fact that, for example, in Ellis-van-Creveld syndrome there are at least two genes located next to each other that can lead to the same symptoms. The autosomal recessive inheritance means that the parents only pass this disease on to their child if they both have the heterozygous mutated gene in their genome.
Each gene is duplicated because all chromosomes are duplicated except male sex chromosomes. Heterocyte means that in addition to a diseased gene, a person always carries a correspondingly matching healthy gene. This mixed inheritance means that the disease can be significantly less pronounced or the recessive inheritance can compensate for the diseased gene with the healthy gene.
These people are asymptomatic, that is, they are carriers of the gene that does not lead to an outbreak in them. Because babies are either stillborn or die minutes after birth, there is no conclusive estimate of how many of these miscarriages actually carry Verma-Naumhoff syndrome.
symptoms and course
The clinical picture manifests itself in many ways. Since this syndrome belongs to the group of short-rib polydactyly diseases, the characteristic symptoms are characterized by short ribs, multi-fingeredness (polydactyly), respiratory insufficiency and hypofunction of the lungs. Another major feature is in the form of jagged long bone dysplasia. There can also be an increased accumulation of water in the chest (hydrops).
Polydactyly occurs in only fifty percent of affected children, while difficulty breathing is a key symptom. This is closely linked to various heart defects . Other co-occurring symptoms make clear why children with Verma-Naumhoff syndrome are not viable. They suffer from short intestines and malrotation (rotational disorder) of the small and large intestine , which can cause intestinal obstruction .
A malformed rectum is responsible for a missing breakthrough to the anal pit (anal atresia). In urethral atresia, the opening at the end of the urethra is missing. Underdeveloped kidneys , malformed genitals and a cleft palate are also possible. The epiglottis exhibits malformations associated with a narrowed esophagus . The connection to the stomach can also be completely absent (esophageal atresia). The esophagus (gullet) can also connect to the windpipe instead of the stomach.
Diagnose
Prenatal diagnostics are used to determine whether parents are carriers of this hereditary disease and whether their unborn child already has the disease. The sonography shows on the X-rays greatly shortened ribs as the main symptom. The long bones are not shortened at the end as in Saldino-Noonan syndrome, but jagged. Computed tomography or magnetic resonance imaging additionally confirm this finding.
treatment and therapy
There is no therapy for this disease, it is without exception fatal (lethal), since the deformities are so serious that the child is not viable. For this reason, it is already born as a stillbirth or dies a few minutes after birth.
As with any syndrome, the symptoms of this disease also vary and vary in severity. However, it is not known whether there is a chance of survival for some of these manifestations.
prevention
Since this disease is inherited in an autosomal recessive manner, no one can take preventive measures in a clinical sense to protect themselves from being a carrier of this gene and preventing it from being passed on to the unborn child. Whether or not parents pass this disease on to their child, who is not viable, is decided solely by inheritance.
Hello and welcome to my Health Guide & Encyclopedia! My name is Dorothy Farrar, and I'm the founder and main author of this platform.
My passion for health and wellness started at a young age when I became interested in the connection between the food we eat and the way we feel. This fascination led me to study nutrition and dietetics in college, where I learned about the importance of a balanced diet and the impact of various nutrients on the body.