Doctor insights on:
Facts About Treacher Collins 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
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
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
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
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
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
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
What is the chance that hearing loss is caused by treacher collins syndrome? What are the usual symptoms?
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
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
Normal: If the craniofacial abnormalities are addressed then the life expectancy can be otherwise normal. ...Read more
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
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
Deadly process: First noted in the 60'sand peaking in the 70s, 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
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
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
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
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
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