Weaver Syndrome: Causes, Symptoms, Treatment, Diagnosis
What is Weaver Syndrome?
Weaver Syndrome is an unusual pathological condition in which there is accelerated physical growth than normal. This accelerated growth normally starts before birth and continues after the birth of the child such that the bones of the child start to grow much faster than normal.
Additionally, the child can show hypertonia or increased muscle tone and increased reflexes. Psychomotor retardation and certain skeletal deformities in the lower extremities are some of the other presenting features of Weaver Syndrome.
What are the Causes of Weaver Syndrome?
The main cause of Weaver Syndrome is still a matter of research. Some researchers are of the opinion that since there have been some cases in which mothers who have been mildly affected by this condition have given birth to children who are more severely affected, thus there is an inheritance link to Weaver Syndrome.
As this condition is inherited, there may be an autosomal dominant trait. In this aspect, there have been difference of opinion in which some researchers are of the opinion that this condition follows an autosomal recessive trait meaning that two copies of the defective gene is required from each parent in order for the child to develop Weaver Syndrome. In some cases, there is no inheritance pattern and the cause is unknown for the development of Weaver Syndrome.
What are the Symptoms of Weaver Syndrome?
The classic presenting feature of Weaver Syndrome is faster normal growth of bones but the weight and height relationship is more or less normal meaning that the bones of the affected individual develops and matures faster but the weight and height remains within normal limits for the age of the individual.
The symptoms in some instances are not observed for several months after birth and then there is a gradual increase in the muscle tone and reflexes. The child may also start to show some glimpses of psychomotor retardation.
Some of the other symptoms of Weaver Syndrome are wide set eyes, eyelid abnormalities, broad forehead, abnormally large ears, and extremely thin hairs. Malformed toes and clubfoot are also some of the features of Weaver Syndrome.
How is Weaver Syndrome Treated?
There is no cure for Weaver Syndrome. The treatment is basically symptomatic and supportive. The various skeletal deformities can be corrected with surgery but a consultation with an orthopedist is a must so that the best possible route may be chosen to correct the deformities. Additionally, genetic counseling may be effective for the patient as well as the parents who are dealing with Weaver Syndrome.