Doctor insights on:
Life Expectancy Of Treacher Collins Syndrome
Treacher collins: Is a congenital disorder characterized by craniofacial deformities, such as absent cheekbones. Treacher collins syndrome is found in about 1 in 50, 000 births. The typical physical features include downward slanting eyes, micrognathia (a small jaw), conductive hearing loss, underdeveloped zygoma, drooping part of the lateral lower eyelids, and malformed or absence of ears.See 1 more doctor answer
TC Syndrome: TCS is a genetic craniofacial disorder. Complete description here: http://en. Wikipedia. Org/wiki/Treacher_Collins_syndrome See oral surgeon or craniofacial surgeon for surgical corrections procedures. Requires years of management by surgeon, speech therapist, pediatrician, orthodontist.
Inherited Disorder: Treacher Collins Syndrome, or mandibulofacial dysostosis is an inherited craniofacial disorder with a distinct set of characteristics. These characteristics include hypoplasia (underdevelopment) of the facial bones, clefting of the palate, ear anomalies and eye problems. While there is no "cure, " there are craniofacial teams that can help patients surgically with the syndrome.
No: Treacher collins syndrome is an autosomal dominant mutation of a gene that codes for a nucleolar phosphoprotein. Researchers cite chromasome 5 as the predominant location for this defect. About 60% of cases are thought to represent new mutations.
No: Tcs is an autosomal dominant disorder. The primary identified mutation is in the tcof1 gene (97%) which is located on chromosome 5q32-q33.1. There are at least 2 other gene defects that are responsible for some cases. Since these defects are in the main dna, it is not mitochondrial in origin.
Absolutely!: Results, both functional and esthetic will vary depending on the severity of the defects. Some treacher-collins patients do have some developmental disabilities as well as hearing and speech problems. Your best bet for advice for the long-term is being a patient in a comprehensive, multi-disciplinary cleft and craniofacial clinic.
What is the chance that hearing loss is caused by treacher collins syndrome? What are the usual symptoms?
50 % have it.: 50% of treacher collins patients have hearing loss. Usually due to malformations of the external ear or ear canal. Can be improved with reconstructive surgery. See a facial plastic surgeon.
Yes: Like any syndrome, treacher collins can have a number of different features associated with it. Cleft palate as well as other distinguishing features: small zygomatic bones and mandibles, external ear abnormalities, coloboma (notching) of the lower eyelid, absence of the lower eyelashes, and preauricular hair displacement onto the cheeks. About 40%-50% of individuals have conductive hearing loss.See 2 more doctor answers
Many signs: Patients have an under-de eloped lower jaw and chin, down-slanting eyes, may have ear deformities, poor or absent hearing, nasal deformities and under-developed cheekbones. There are other findings, depending on the severity of the syndrome.
Normal: If the craniofacial abnormalities are addressed then the life expectancy can be otherwise normal.
Normal: Why do you ask? If a family member is affected, the parents should have received genetics counseling: If not, they should arrange for it. See TreacherCollins. Org
Not Known: This disease has been diagnosed in about 300-500 people and is known as a disease entity only since 2005. Life expectancy is expected to increase like in marfans syndrome with improved awareness and medical progress. Due to the high risk of death from aortic aneurysm rupture, patients should be followed closely. A valuable resource for this is http://www. Loeysdietz. Org/index. Ph.
Normal: These women appear no different from any other and have no special problems.
Normal: Before neurosurgeons learned how to open skulls tutors patients who went untreated would have severe effects from constructing the brain since the skull could not grow. When treated early, The brain is allowed to grow normally.
Normal exectancy: Individuals with aspergers disorder do not have any specific related conditions that would shorten the life span of an affected individual.
Genetic disorders: It would help if you would be specific about what your genetic disorder is.
Haven't seen numbers: Haven't seen any numbers on life expectancy of lennox-gastaut patients. Maybe nobody has collected and published that information. One website reported a 3%-7% mortality in patients over a 9 year period (that sounds like 1/2 % per year). The deaths were often due to accidents. In such disorders, if a person is watched and cared for closely, he can outlive parents, and die of other natural causes.
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