What is the door syndrome?

door syndrome is a serious but rare genetic disorder. The syndrome is named after its four main symptoms. These are deafness, onyastrystrophy, osteodystrophy and mental retardation. The door syndrome is a recessive feature that can be inherited, and is most often detected in children shortly after birth.

deafness is the main symptom of the door syndrome. The loss of hearing caused by this syndrome is called "sensorineural", which means that the auditory nerve and the inner ear of the patient do not form properly. Sensorineural hearing loss is sometimes repaired by hearing aids. Hurry can be permanent in patients with doors if the auditory nerve is seriously deformed. This is a condition that causes deformities on the nails on the hands and feet. The nails affected bychodystrophy can be faded with a yellowish look. In addition, the fingers and fingers of nail people suffering from doors are often very fragile and easy to Damaged. Severe cases of onychodystrophy caused by the door can lead to a complete loss of nails or toes. ThisThe condition causes bones to develop incorrectly. Small bones such as fingers are often wrong and do not work properly. Some patients suffering from other non -functional bones in the thumb and tip areas. Osteodystrophy is extremely debilitating and can affect the patient's ability to walk, stand and perform basic life skills.

The final symptom that characterizes the door syndrome is mental retardation. It can be either mild and manageable or serious and completely incapable. Mental retardation limits cognitive abilities and is very difficult for patients to function during everyday life. Usually this condition limits the skills of developing language, memory and problem solving.

There has been little known since 2011 very causes and treatment of doors. The syndrome is genetically classified as an autosomal recessive property. In order for the door to be present at the individual, two copies of the mutated GE are requiredwell. A parent can carry a gene causing door syndrome without suffering from the disorder itself.

Generally, door care includes management of individual physical symptoms. This may include the use of tools to improve quality of life, such as auditory aids and wheelchairs. Advances in understanding and receiving mental disorders and other symptoms caused by doors often allow patients to receive education and social exposure despite these disabilities.