Collins Syndrome : Causes, Symptoms and Treatment

Collins Syndrome : Causes, Symptoms and Treatment
In the world there are a lot of rare and serious diseases associated with genetic defects, including influencing the development of the skeleton and soft tissues of the face.One such disease is the Collins syndrome (Treacher).

Collins syndrome - a mysterious and severe disease, leading to the birth of children with severe facial anomalies, disfigure the face.Oh syndrome is little known, although these people have enough of the world.

presenting the answers to the most important questions about the disease.

Collins syndrome: what a

Collins syndrome is caused by a genetic disorder.This breakdown in the genes leads to consequences in the form of severe congenital anomalies of the facial skeleton.Such an anomaly occurs in one case per 10 thousand. Newborn.

As a result, there is a defect in the development of the skull and face.Bones in the face - the forehead, nose and facial - may be underdeveloped, with the nose in the background of the bones will seem large.Also, bones are underdeveloped jaw and c


Some patients also have defects in development and bone inside the skull - palatal area with the formation of "cleft palate" may occur strabismus and defects of the orbits, as well as hearing problems due to strongly pronounced deformation of the auditory canal and the auditory ossicles.

With all this external disfigurement intellectual abilities of children with the syndrome Collins are consistent with age, it is clever and appropriate children who due to external problems is very difficult to adapt and exist in our society.

Causes of Collins syndrome

Collins syndrome is caused by mutations in a particular gene, or rather groups of genes - TCOF1, POLR1C or POLR1D.A first embodiment - to cause 90% of all the pathologies, and the second and third syndrome for substantially heavier.

These genes are responsible for the formation of the facial bones and tissues of the face, for these genes the body as the scheme in the early prenatal period collects the face of the baby-blocks of proteins.Broken circuit can not give the body to assemble information, and the face becomes disfigured appearance.

believed that this mutation inheritance - autosomal dominant, that is, these parents will have children with this syndrome with a high probability.But up to 60% of children with these anomalies were born from healthy parents is quite normal, indicating that spontaneous new mutations.

influence the genes that appeared similar mutation may many adverse factors - smoking and alcohol intake during pregnancy, drug use, serious disease, taking certain medications, and more.

How is the disease and whether it is possible to live with her

extent of the problem can be from mild lung abnormalities and underdevelopment of the bones, to severe.Surgery often is able to correct a mistake of nature.

A unique event known to medicine - in 2003, a girl was born with severe Julian Collins syndrome, she did not have up to 40% the facial bones - maxilla, zygomatic arch, partially bones of the orbit, and was deformed outer ear canal.Today it is the heaviest of the known cases, Collins syndrome.

For seven years the girl have been many plastic surgeries, thanks to which it gradually acquires the face.She had learned to speak, he goes to school, although at birth, doctors gave her little chance - she could not eat by mouth and breathe through the trachea.

¬ęGirl Without a Face," as dubbed Julianne journalists - a real fighter.Her intelligence is consistent with age, she is very fond of his family, his sister and parents.Today's medicine stepped far in solving problems like children, but the girl is still a few years of treatment.

Collins Syndrome Treatment

modern medicine often reveals more like syndrome in utero, on the ultrasound screening.In this case, the mother is offered an abortion for medical reasons.

But if abortion has not occurred or diagnosed after birth, the baby coming genetic counseling and reconstructive surgery to restore the bones of the face.

In addition, specialists are hearing aid for children with hearing loss conductive type, dental surgery in case of problems with the development of the jaws.Speech therapy sessions are recommended for the development of speech for the violation of the speech apparatus.

Provided comprehensive rehabilitation of children with Collins syndrome can successfully adapt and evolve in accordance with the age norm.

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