Treacher Collins Syndrome Pictures

What is Treacher Collins syndrome?

It is a rare genetic condition affecting the head and face. It is also called mandibulofacial dysostosis. ⁽¹⁾

Treacher collins syndrome pictures

Characteristics of Treacher Collins syndrome

• down slanting of the eyes
• lower eyelids are notched
• underdeveloped/absence of cheekbones
• small and slanting lower jaw
• malformation of the ears ^{(1, 2, and 3)}

The severity of treacher collins syndrome symptoms varies from one person to another. Some people may be mildly affected while others can be severely affected.

What causes Treacher Collins syndrome?

It is caused by an abnormal change in the chromosome 5, which is the very same chromosome that affects the development of the face. It is an inherited condition. Studies show that if the parent has Treacher Collins syndrome, there is a 50% chance that the child will inherit it. ^{(3, 4)}

Other possible problems related to Treacher Collins syndrome

• Eating difficulties
• Breathing problems
• Possibility of hearing loss secondary to earn abnormality
• Susceptibility to eye infection
• Possibility of cleft palate ^{(4, 5)}

Prevalence rate

Treacher Collins syndrome affects the male and female population equally. As mentioned above, it is a very rare condition affecting one out of 10,000 to 50,000 population. ⁽⁵⁾

Diagnosis

A thorough clinical evaluation is made to accurately diagnose the condition of the patient. The doctor will check for the presence of craniofacial abnormalities. X-ray studies are performed to thoroughly check the condition of the patient. If deemed necessary, molecular genetic testing is performed to confirm the diagnosis. ^{(6, 7)}

Is there a treatment for treacher collins syndrome?

Unfortunately, there is no exact cure for Treacher Collins syndrome. What medical experts can offer is symptomatic relief that is apparent to each person. The patient's case is handled by a team of healthcare professionals including pediatrician, surgeon, ophthalmologist, psychologist, and allied healthcare workers.

The patient's condition is closely monitored to check for any abnormalities that are associated with the disorder. Early intervention is a must to make sure that the patients with Treacher Collins syndrome will be able to reach their potential. Other supportive approaches include speech therapy, social support, and genetic counseling.

when deemed necessary, a surgical procedure is done such as the reconstruction of craniofacial malformations. If the patient has a cleft palate, it should be corrected surgically. The same thing goes for other facial malformations. ^{(2, 4, 6, and 7)}

Treacher Collins syndrome life expectancy