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Doctor insights on: Symptoms Of Treacher Collins Syndrome

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Dr. Mark Ingerman
8 doctors shared insights

Treacher Collins Syndrome (Definition)

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


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Common symptoms of Marfan's syndrome?

Marfan Syndrome: There is significant variability in how marfan syndrome presents in people. Possibly symptoms include: tall height; long arms, legs, fingers & toes, heart murmur, curved spine, flat feet, nearsightedness & deformity of the breast bone. ...Read more

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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

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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

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What are frey syndrome, horner's syndrome and shy-drager syndrome?

What are frey syndrome, horner's syndrome and shy-drager syndrome?

What do they have in: They all have abnormalities of autonomics and other nervous sytem problems. ...Read more

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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

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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

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What are the symptoms of digeorge syndrome?

What are the symptoms of digeorge syndrome?

22q11.2 deletion: Wide variation including congenital heart disease (conotruncal abnormalities), cleft palate, t cell deficiency (thymic hypoplasia/aplasia), parathyroid deficiency (hypocalcemia), learning difficulties, and schizophrenia. ...Read more

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What are the symptoms of prader willi syndrome?

What are the symptoms of prader willi syndrome?

Thanks for asking!: Poor muscle tone, lack of eye coordination, poor sucking, weak cry during infancy. Behavioral problems, developmental delay, obesity in childhood. ...Read more

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Is there any doctor with experience of seeing patients with Cowden's syndrome, Bannayan-Riley-Ruvalcaba syndrome, PTEN hamartoma tumour syndrome?

Is there any doctor with experience of seeing patients with Cowden's syndrome, Bannayan-Riley-Ruvalcaba syndrome, PTEN hamartoma tumour syndrome?

Cowden Syndrome: http://ghr.nlm.nih.gov/condition/bannayan-riley-ruvalcaba-syndrome http://ghr.nlm.nih.gov/condition/cowden-syndrome http://rarediseases.info.nih.gov/gard/6202/cowden-syndrome/resources/8 Those are fairly rare disease Perhaps the above links could assist you. Seems like University of Iowa does have expertise. ...Read more

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What are the symptoms of angelman syndrome?

What are the symptoms of angelman syndrome?

Early on: Seizures & microcephaly ( small head), developmental delays may present first, characteristic facial features ( e.g., pointed chin) are seen. Later, ataxic ( unsteady) gait hand -flapping, happy demeanor with frequent laughter, intellectual disability, hyperactivity, short attention span, severe language impairment, feeding problems, chewing/mouthing objects, gene involved is on chromosome 15. ...Read more

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What are the symptoms of hughes syndrome?

What are the symptoms of hughes syndrome?

Clots & miscarriage: Hughes syndrome, aka antiphospholipid syndrome, is a clotting disorder leading to an increased tendency to blood clotting. It may be autoimmune in origin. Symptoms include migraine headache, memory loss, pulmonary embolism, mottled skin (see photo), recurrent miscarriage, abdominal pain & stroke. For more information visit this website: http://www.Hughes-syndrome.Org. ...Read more

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What are common symptoms of angelman syndrome?

What are common symptoms of angelman syndrome?

Angelman syndrome: Severe developmental delays, sleep disturbance, jerky movements, seizures, intellectual deficits, & a happy demeanour. ...Read more

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How are the classic symptoms of guillain barre syndrome like?

How are the classic symptoms of guillain barre syndrome like?

Guillain-Barre: Is a form of ascending paralysis which has several major forms and can result in long term persistent neurological deficits. There is a recent excellent review of this illness in the new england journal of medicine. Look online. ...Read more

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What are the symptoms of williams syndrome?

What are the symptoms of williams syndrome?

Williams syndrome: Delayed speech that may later turn into strong speaking ability and strong learning by hearing developmental delay easily distracted, attention deficit disorder (add) feeding problems including colic, reflux, and vomiting inward bend of the small finger (clinodactyly) learning disorders mild to moderate mental retardation personality traits including being very friendly, trusting strangers, fearin. ...Read more

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What are the symptoms of turner syndrome?

What are the symptoms of turner syndrome?

Turner syndrome: Symptoms and features of turner syndrome: thick neck, wide chest with distant nipples, osteoporosis, short stature, higher risk of diabetes, osteoporosis, heart murmur secondary to heart disease, arms turning outwards at the elbows, not having periods during pubertal age, learning disability. ...Read more

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What are the symptoms of miller fisher syndrome?

What are the symptoms of miller fisher syndrome?

Eye and Gait symptom: Miller-fisher syndrome is a limited variant of guilliane-barre syndrome, and involves weakness of the eye muscles resulting in double vision, dilated pupils, drooping eye lids, and abnormal gait and clumsiness in hands. Weakness of the muscles in the face, throat and tongue result in difficulty swallowing foods, slurred speech, difficulty with smiling, inability to whistle or close the lips. ...Read more

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What are signs of guillain barre syndrome?

What are signs of guillain barre syndrome?

Acute neuritis: An ascending rapidly progressive weakness then paralysis, starting typically bilaterally in legs, later arms and hands, and later yet issues with swallowing and breathing, often following influenza, but also seen with infectious mono, some GI infections, and could lead to respiratory collapse if not properly treated. ...Read more