Expanded Description
Franceschetti-Klein Syndrome, also known as the Treacher Collins Syndrome, is a condition that affects bone development and tissues of the face. Being a rare autosomal dominant congenital disorder, most people with these disease don’t have cheekbones. For this particular disease, the level of symptoms shown in an individual vary vastly, ranging from unnoticeable to extremely severe. |
Prevalence
The number of males and females in terms of being affected by Franceschetti-Klein Syndrome is equal. Only 1 in between 10,000 and 50,000 people are affected by this disease. Some people who are affected mildly might not get diagnosed, hence giving a difficult estimate to the population of people who are truly affected by Franceschetti-Klein Syndrome.
The number of males and females in terms of being affected by Franceschetti-Klein Syndrome is equal. Only 1 in between 10,000 and 50,000 people are affected by this disease. Some people who are affected mildly might not get diagnosed, hence giving a difficult estimate to the population of people who are truly affected by Franceschetti-Klein Syndrome.
Causes
Franceschetti-Klein Syndrome is caused due to a mutation in any of the following genes: TCOF1 (over 80% of patients’ cases), POLR1C, or POLR1D. These specific genes helps the bones and the tissues of the face to develop. In addition, these genes are involved in making proteins (known as treacle) that makes ribosomal RNA (which is a chemical needed to make new proteins that helps the body function normally). Mutation in any of these genes reduce the production of ribosomal RNA, causing the cells involved in the development of bone and tissues of the face to die prematurely, eventually leading to the affected individual showing symptoms of the disease.
Franceschetti-Klein Syndrome is caused due to a mutation in any of the following genes: TCOF1 (over 80% of patients’ cases), POLR1C, or POLR1D. These specific genes helps the bones and the tissues of the face to develop. In addition, these genes are involved in making proteins (known as treacle) that makes ribosomal RNA (which is a chemical needed to make new proteins that helps the body function normally). Mutation in any of these genes reduce the production of ribosomal RNA, causing the cells involved in the development of bone and tissues of the face to die prematurely, eventually leading to the affected individual showing symptoms of the disease.
Disorder Symptoms
The signs and symptoms for Franceschetti-Klein Syndrome vary significantly from person to person, despite even being in the same family. As mentioned above, some people are affected mildly and go undiagnosed. Most people that are affected by this disease have underdeveloped facial bones, mostly the cheekbones. These people might also have small jaw and chin. Patients with this disease could have eyes that are slanted downwards, sparse eyelashes, and a notch in the lower eyelids.
The signs and symptoms for Franceschetti-Klein Syndrome vary significantly from person to person, despite even being in the same family. As mentioned above, some people are affected mildly and go undiagnosed. Most people that are affected by this disease have underdeveloped facial bones, mostly the cheekbones. These people might also have small jaw and chin. Patients with this disease could have eyes that are slanted downwards, sparse eyelashes, and a notch in the lower eyelids.
Diagnosis
The diagnosis for Franceschetti-Klein syndrome is based through clinical evaluation, patient’s detailed history, and identification of physical symptoms of the disease. One of the physical signs include having a malformation or absence of the external ear at birth.
The diagnosis for Franceschetti-Klein syndrome is based through clinical evaluation, patient’s detailed history, and identification of physical symptoms of the disease. One of the physical signs include having a malformation or absence of the external ear at birth.
Figure 1
Diagnostic Tests
Specialized x-ray tests (Figure 1) can confirm the presence of craniofacial abnormalities. For instance, imaging tests can show the small abnormality in the jaw (due to its underdevelopment in the lower jaw bone). The imaging tests can also show the presence of hypoplasia affecting certain parts of the skull and additional abnormalities taking place in the ear. Molecular genetic testing for diagnosis is also available. These genetic tests are useful in finding mutations in the TCOF1, POLR1C, and POLR1D genes.
Specialized x-ray tests (Figure 1) can confirm the presence of craniofacial abnormalities. For instance, imaging tests can show the small abnormality in the jaw (due to its underdevelopment in the lower jaw bone). The imaging tests can also show the presence of hypoplasia affecting certain parts of the skull and additional abnormalities taking place in the ear. Molecular genetic testing for diagnosis is also available. These genetic tests are useful in finding mutations in the TCOF1, POLR1C, and POLR1D genes.
Disorder Treatments
Currently, there is no definite cure for Franceschetti-Klein Syndrome. However, there is still treatment where it is given to affected people that have specific needs for the treatment. Newborn babies may be given special positioning in order to manage their airways. Hearing loss in affected patients may be treated through bone conduction amplification, speech therapy, and educational intervention. Surgery may be performed in order to repair the cleft palate to reconstruct the jaw (or other bones in the skull).
Currently, there is no definite cure for Franceschetti-Klein Syndrome. However, there is still treatment where it is given to affected people that have specific needs for the treatment. Newborn babies may be given special positioning in order to manage their airways. Hearing loss in affected patients may be treated through bone conduction amplification, speech therapy, and educational intervention. Surgery may be performed in order to repair the cleft palate to reconstruct the jaw (or other bones in the skull).
Prognosis
In most cases, people who are affected by Franceschetti-Klein Syndrome can grow up to be fully functioning adults with average intelligence. Along with proper care, the patient’s life expectancy can be approximately the same as the general population’s life expectancy. In severe cases of Franceschetti-Klein Syndrome, people may die from compromised airways.
In most cases, people who are affected by Franceschetti-Klein Syndrome can grow up to be fully functioning adults with average intelligence. Along with proper care, the patient’s life expectancy can be approximately the same as the general population’s life expectancy. In severe cases of Franceschetti-Klein Syndrome, people may die from compromised airways.
Tips for Living with the Disorder
People with this disorder should always be optimistic and never be ashamed of what they are affected by. Other than personal, inner conflict, if patients find themselves having trouble to breathe, they should seek a doctor immediately. This is because the trouble in breathing may be the result of gradually getting a compromised airway.
Simon Moore (Figure 2; person on the right), aged 30, was born with Franceschetti-Klein Syndrome. He was born with no cheekbones and had hearing problems. After Simon and his wife figured out that their unborn daughter, Alice, was suffering from the same condition as Simon, the couple knew that they needed to keep and take care of her.
People with this disorder should always be optimistic and never be ashamed of what they are affected by. Other than personal, inner conflict, if patients find themselves having trouble to breathe, they should seek a doctor immediately. This is because the trouble in breathing may be the result of gradually getting a compromised airway.
Simon Moore (Figure 2; person on the right), aged 30, was born with Franceschetti-Klein Syndrome. He was born with no cheekbones and had hearing problems. After Simon and his wife figured out that their unborn daughter, Alice, was suffering from the same condition as Simon, the couple knew that they needed to keep and take care of her.
Figure 2