What is the Holt-Oram Syndrome?

Holt-oram syndrome is a rare genetic disorder that causes heart problems and abnormal bone development in the upper limbs. These symptoms may occur in countless ways, from abnormalities that can only be detected through X -ray to the complete absence of forearm bones. Some with a holt-ooam syndrome may not have an inch or extended at all that is similar to your finger. Skeletal abnormalities can only affect one or both sides of the body. Most patients also develop serious heart problems such as a septum hole or abnormal heart rate. Holt-ooam syndrome is caused by mutation in the TBX5 gene, which affects the in-eunero development of the upper limbs and hearts. The gene is likely to play a key role in the development of a normal four -chambered heart and arm and hand bone. The mutation of the characteristics of this syndrome interrupts these processes regulated that the gene. Carpal bones are almost always affected, although this abnormality can only be detected by X -ray. The bones of the arms may be insufficiently developed or completely nnarrow. The thumb can be too short or long to resemble the fifth finger. This syndrome can also be influenced by collar bones and shoulder blades.

Two -thirds of these patients also develop some kind of heart problem. Such problems often threaten life. Septa defects, as holes in the muscle wall separating the heart chambers, are common. Unusual heart rate is also common, which can be too fast or too slow. In some cases, the heart may be placed towards the center of the chest rather than the left and the veins may mislead the blood.

The diagnosis of this condition is a process that usually begins when child is born if the abnormalities of the hand and hand are obvious. If not, the holt-ooM syndrome may not be suspicious until heart problems are reflected. X -rays generally reveal skeletal abnormalities while the electrocardiogram can show whether they are presentsome heart problems.

There is no cure for Holt-ooram syndrome, so treatment often focuses on alleviating symptoms and improving the patient's functionality. Heart problems are usually evaluated and treated with a cardiologist. Drugs can be treated, but surgery is also recommended. The orthopedic surgeon can be consulted with regard to serious skeletal abnormalities.

Mutation causing Holt-oora syndrome is rare and affects approximately one in 100,000 people. It can be inherited, which is only one copy of the mutated gene to the cell. However, most patients have no family history of syndrome because their cases are the result of a new mutation. Those individuals carrying holt-oramsyndrome may want to seek genetic counseling before they have children, because every biological child could receive a 50% chance to inherit the mutation.