Top
30
Doctor insights on: Facts About Treacher Collins Syndrome

Share
1

1
What is Treacher Collins Syndrome?

What is Treacher Collins Syndrome?

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. ...Read more

Dr. Bernard Seif
8 doctors shared insights

Treacher Collins Syndrome (Definition)

A congenital disorder characterized by craniofacial deformities, ...Read more


3

3
What is treacher collins syndrome? Is there a cure?

What is treacher collins syndrome? Is there a cure?

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. ...Read more

4

4
What is the definition or description 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. ...Read more

See 1 more doctor answer
5

5
What is the life expectancy for someone with Treacher Collins Syndrome?

What is the life expectancy for someone with Treacher Collins Syndrome?

Usually normal: The life expectancy of a person with Treacher Collins Syndrome is normal. The exception is if there are significant jaw malformations which can affect breathing. ...Read more

6

6
Is treacher collins syndrome a mitochondrial disorder?

Is treacher collins syndrome a mitochondrial disorder?

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. ...Read more

7

7
Can anyone tell me is treacher collins syndrome a mitochondrial disorder/disease?

Can anyone tell me is treacher collins syndrome a mitochondrial disorder/disease?

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. ...Read more

8

8
Can people who are born with treacher collins syndrome, after surgeries, end up ok?

Can people who are born with treacher collins syndrome, after surgeries, end up ok?

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. ...Read more

9

9
Is treacher collins syndrome a genetic disease?

Is treacher collins syndrome a genetic disease?

Yes: In some patients it is a new mutation, while in others it is passed down from a parent. ...Read more

See 1 more doctor answer
10

10
What is the chance that hearing loss is caused by treacher collins syndrome? What are the usual symptoms?

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. ...Read more

11

11
What is treacher collins syndrome? Can it cause a cleft palate?

What is treacher collins syndrome? Can it cause a cleft palate?

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. ...Read more

See 2 more doctor answers
12

12
What is treacher collins symptoms?

What is treacher collins symptoms?

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. ...Read more

13

13
What is the life expectancy for kids who have treachers collins syndrome?

What is the life expectancy for kids who have treachers collins syndrome?

Normal: If the craniofacial abnormalities are addressed then the life expectancy can be otherwise normal. ...Read more

14

14
Is there a life expectancy for Treachery Collins Syndrome?

Is there a life expectancy for Treachery Collins Syndrome?

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 ...Read more

15

15
What's little man syndrome?

What's little man syndrome?

Short man syndrome: Another name for the short or little man syndrome is a napoleon complex. Sometimes men with short stature may feel inferior and over-compensate for it. An example: a short man who aggressively drives the top of the line sports car- (is he compensating for feelings of inadequacy?). ...Read more

16

16
How do you get reye's syndrome?

How do you get reye's syndrome?

Deadly process: First noted in the 60'sand peaking in the 70's, this is a pattern of acute liver failure,coma and often death. It often struck kids recovering from flu or chickenpox. Its cause is unclear, but an association with intake of any aspirin product was recognized.After salicylates were stopped for kids under 16, the condition has all but disappeared. ...Read more

See 1 more doctor answer
17

17
How to diagnose brown syndrome?

How to diagnose brown syndrome?

MRI: A rare disorder, in which the tendon of the superior oblique eye muscle becomes entrapped. Mri and mr angiography are recommended studies, the MRI study may need to be performed with gadolinium enhancement. ...Read more

See 1 more doctor answer
18

18
Sir can ye help on KS syndrome?

Sir can ye help on KS syndrome?

Not sure: I do not know what you mean by KS syndrome. Do you mean Klinefelter Syndrome? Sorry. Please post again and I will try to answer your question. Dr R ...Read more

19

19
What can cause conn's syndrome?

What can cause conn's syndrome?

Cause of Conn's: 37F from PA "what causes Conn's Syndrome?" Classically due to adrenal adenoma making excess aldosterone. Aldosterone and eating too much salt causes high BP, later low K, cramps, weakness, having to get up at nigh to pee many times, arrhythmias, brain fog, headache. I recommend DASH eating plan: lo Na/hi K improves Sx. I specialize in Conn's. Go to hyperaldosteronism at Yahoo 1,300 like you there ...Read more

20

20
Is sjodrens syndrome very bad?

It's not: Life threatening and there are good products to help. Good luck. ...Read more

21

21
What is werewolf syndrome? A joke?

What is werewolf syndrome? A joke?

No: Acute intermittent porphyria used to be called the werewolf syndrome. It does not mean that these patients are werewolves. Many have some symptoms, such as excessive hair growth and red urine, that reminded people of werewolves. ...Read more

22

22
How do you treat wernickes syndrome?

How do you treat wernickes syndrome?

Thiamine: Acute wernicke's is a medical emergency for which thiamine is the key to successful treatment. Longstanding wernicke's, with mental changes, poor coordination, and problems moving the eyes, can only be treated with support. ...Read more

24

24
What can I do for raynauld's syndrome?

What can I do for raynauld's syndrome?

Doctor can evaluate: Other than treating the underlying condition(s) causing raynaud's symptoms, avoiding emotional stress, keeping warm, not smoking, and avoiding caffeine, some medications can help. Nifedipine, diltiazem, losartan, and prazosin have been used in patients with raynaud's phenomenon, to block vasospasm and/or relax vessels so they can dilate to let more blood flow through them. ...Read more

See 1 more doctor answer
25

25
Help? I believe I have martyr syndrome?

The issue is that if: You act like a martyr then you are obtaining gratification from it. People are usually resistant to changing behavior if there is some payoff for retaining the behavior. ...Read more

26

26
Is it possible to cure morguio syndrome?

Is it possible to cure morguio syndrome?

No: Morquio's syndrome (referred to as mucopolysaccharidosis IV or morquio's) is an autosomal recessive mucopolysaccharide storage disease (see also lysosomal storage disorder), usually inherited. It is a rare type of birth defect with serious consequences. Because it is genetic, there is no cure, but it can be treated with enzyme replacement therapy. ...Read more

27

27
What are remedies for Kundalini syndrome?

What are remedies for Kundalini syndrome?

Kundalini syndrome: Some would suggest taking a break from your spiritual practice, and spending more time in nature. Walk barefoot, ground yourself on the earth. Do physical work and physical exercise. Eat full meals. Get plenty of rest. Avoid stimulating substances -- alcohol, drugs, coffee, and tea. Medications are not really the answer for this. You might also speak with your yoga instructor about it. ...Read more

28

28
Is it easy to diagnose sjögren’s syndrome?

Is it easy to diagnose sjögren’s syndrome?

Depends: A full blown case can be easily diagnosed by physical examination and laboratory tests. ...Read more

See 1 more doctor answer
30

30
How could jackson-weiss syndrome get its name?

From its discoverers: Here's the article from 1976 http://www.jpeds.com/article/S0022-3476(76)81050-5/abstract

Get a more detailed answer ›