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Doctor insights on: Symptoms Of Gorlin Syndrome

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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 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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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 rett syndrome?

Regressed developmen: The hallmark is a developmental regression usually starting in the first 2 years. This is associated with loss of visuion ...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 the symptoms of alagille syndrome?

What are the symptoms of alagille syndrome?

Jaundice: Alagille syndrome is an autosomal dominant inherited rare condition that primarily affects the liver. Symptoms can be mild or so severe as to require liver transplantation. Jaundice and skin itching are the primary symptoms. ...Read more

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What are the symptoms of plummer-vinson syndrome?

Wt loss, swallowing: Chronic iron deficiency causes the syndrome (as well as anemia), where abnormal esophageal tissue growths start to block the esophagus, causing difficult swallowing, and wt loss. ...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 kallman syndrome?

What are the symptoms of kallman syndrome?

Kallmans syndrome: •failure to go through puberty •no sense of smell (anosmia) or very weak ability to smell (hyposmia) •undescended testes (cryptorchidism) in males •small penis (microphallus) in males •menstruation never starts in women (called primary amenorrhea) •simultaneous movement of both hands (called bimanual synkinesis) affects about one-fifth of males with the disorder there are other symptoms that. ...Read more

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What are the presenting symptoms of metabolic syndrome?

What are the presenting symptoms of metabolic syndrome?

Many: Presaging cluster of problems with metabolic syndrome is Insulin resistance associated with an apple build, weight on the middle. Insulin in excess amounts is inflammatory. Then issues such as hirsuitism, pcos, may develop in women, followed by hyperglycemia during pregnancy. Afterwards, men and women may see lipid alterations (high triglycerides, and low HDL levels. \bp problems and type 2dm comes. ...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 werner syndrome?

What are the symptoms of werner syndrome?

WERNER SYNDROME: Clinical DX is by appearance which are premature aging after puberty with hair thinning and development of conditions of old age like cataract, diabetes and osteoporosis. ...Read more

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What are symptoms of serotonin syndrome?

What are symptoms of serotonin syndrome?

Serotonin syndrome: is characterized by neuromuscular, autonomic, and neuropsychiatric (cognitive and behavioral) abnormalities. Restless feeling, continuous muscle spasms, confusion and disorientation. Some may progress to cardiac arrest, seizures, coma or multiple organ failure. It is a life-threatening medical emergency and call 911 is a must! ...Read more

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What are the symptoms of guillain-barre syndrome?

What are the symptoms of guillain-barre syndrome?

Motor weakness: Guillian-barre is an inflammatory disease of the nerve roots that results in pain and progressive motor weakness. It can cause paralysis, breathing failure and problems with the cardiovascular system. If it is suspected, it should be evaluated and treated emergently. Proper treatment can be lifesaving and result in full or near full recovery. ...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 tourette syndrome?

What are the symptoms of tourette syndrome?

Severe tic syndrome: Multiple tics associated with snorting, sniffing, involuntary vocalizations, and troublesome compulsive and aggressive impulses constitute the major features of gilles de la tourette syndrome. It is the rarest and most severe of the tic disorders that begins in childhood, usually as a simple tic. Hyperactivity and disorders of attention and perception are frequent. Intelligence does not decline. ...Read more

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Describe all symptoms of Asperger syndrome in adults?

Describe all symptoms of Asperger syndrome in adults?

Similar to children: Social awkwardness, subtle communication differences, narrowed pedantic interests. But aspies are awesome people, just different, not deficient. See< http://www.Ninds.Nih.Gov/disorders/asperger/detail_asperger.Htm#211353080> & . ...Read more

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What are the symptoms of hypermobility syndrome?

What are the symptoms of hypermobility syndrome?

Loose Joints: Sometimes referred to as "loose joints, " and those affected are referred to as being "double jointed." often joint hypermobility causes no symptoms and requires no treatment. When present symptoms of the joint hypermobility include pain and instability in the hypermobile joints such as the: knees, fingers, hips, and elbows. Treatments are customized for each individual based on symptoms. ...Read more

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Describe the features of behcet syndrome.?

Describe the features of behcet syndrome.?

Behcet Syndrome: Behcet syndrome is defined as a triad of symptoms: genital ulcers, oral (mouth) ulcers, and inflammation of a part of the eye called the uvea (uveitis). Cause is unknown, and the disease is best managed by a rheumatologist and an ophthalmologist. ...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