What is Weismann-Netter-Stuhl Syndrome: Causes, Symptoms, Treatment, Diagnosis
What Is Weismann-Netter-Stuhl Syndrome?
Weismann-Netter-Stuhl Syndrome is an extremely rare pathological condition in which there is abnormal development of bone. An affected individual with Weismann-Netter-Stuhl Syndrome will show bowing of the shafts of the tibia and the fibula.
There may also be involvement of other bones like the ribs, pelvis, spinal cord, and the bones of the upper extremities as well in Weismann-Netter-Stuhl Syndrome. Individuals affected Weismann-Netter-Stuhl Syndrome tends to have a short stature.
The root cause for the development of Weismann-Netter-Stuhl Syndrome is the mutation in certain genes but research is still going on to identify as to the exact gene the mutation of which is responsible for the development of Weismann-Netter-Stuhl Syndrome.
This condition follows an autosomal dominant pattern of inheritance meaning that only one copy of the defective gene from any of the parent is enough for an individual to develop Weismann-Netter-Stuhl Syndrome.
What Are The Causes Of Weismann-Netter-Stuhl Syndrome?
The root cause for Weismann-Netter-Stuhl Syndrome is mutation in gene and follows an autosomal dominant pattern of inheritance meaning that only one copy of the faulty gene is enough for an individual to develop this condition.
The exact gene responsible for the development of Weismann-Netter-Stuhl Syndrome is still a matter of research. In some cases there has been a familial link to the development of this condition.
The function of genes is to create proteins which play an important role in the functioning of various organs. A defect in gene results in insufficient production of proteins resulting in the organs not functioning properly resulting in a variety of complications.
Thus it can be said that the gene which produces proteins that are responsible for development of bones, is responsible for the development of Weismann-Netter-Stuhl Syndrome.
What Are The Symptoms Of Weismann-Netter-Stuhl Syndrome?
An affected individual with Weismann-Netter-Stuhl Syndrome will tend to have short stature with bowing of shafts of the tibia and fibula. In some cases, the femur also is bowed due to abnormal bone characteristics as a result of Weismann-Netter-Stuhl Syndrome.
There are no major functional limitations as a result of Weismann-Netter-Stuhl Syndrome. This is the reason why in majority of the cases this condition remains undiagnosed for many years even after the child reaches adolescence.
The bowing of the bones in shafts of the tibia or fibula is normally bilateral and only in some rare cases is unilateral in people suffering from Weismann-Netter-Stuhl Syndrome.
There may be presence of exostosis in the tibia which can be seen easily through radiographs in cases of Weismann-Netter-Stuhl Syndrome. Additionally, the bones of the pelvis and ribs may also get affected as a result of Weismann-Netter-Stuhl Syndrome.
Coxa Vera which is a hip deformity in which the thigh bone is pointed towards the center of the back is also something that is quite common in cases of Weismann-Netter-Stuhl Syndrome.
How Is Weismann-Netter-Stuhl Syndrome Diagnosed?
Radiographs in the form of x-rays are good enough to confirm a diagnosis of Weismann-Netter-Stuhl Syndrome. These radiographs will clearly show bowing of the shafts of the fibula and tibia along with presence of exostosis in the tibia.
Additionally, there will be thickening of the outer layer of the bones. Bowing of certain other bony structures may also be evident on x-rays in cases of Weismann-Netter-Stuhl Syndrome.
The diagnosis of Weismann-Netter-Stuhl Syndrome is extremely difficult based on physical characteristics alone as there are not many physical deformities that an affected individual displays apart from the short stature and this is precisely the reason behind the diagnosis of Weismann-Netter-Stuhl Syndrome getting delayed.
How Is Weismann-Netter-Stuhl Syndrome Treated?
The treatment of Weismann-Netter-Stuhl Syndrome is directed towards the specific symptoms that the patient displays. While nothing much can be done about the short stature of the patient the bony deformities that are present are definitely treatable.
Surgery is the most preferred option to correct many bony deformities that are caused by Weismann-Netter-Stuhl Syndrome. Additionally, physical and occupational therapy is also quite beneficial in individuals with Weismann-Netter-Stuhl Syndrome.
As stated above, there may not any functional limitations caused due to Weismann-Netter-Stuhl Syndrome but surgical procedures may cut down the damage to a minimum caused by Weismann-Netter-Stuhl Syndrome.
Surgery recommendation is made depending on the severity of the symptoms, the overall health of the patient, and presence of any other comorbid condition which may preclude the individual from undergoing a surgical intervention for treatment of Weismann-Netter-Stuhl Syndrome.