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Doctor insights on: Symptoms Of Joubert 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

Joubert Syndrome (Definition)

Joubert syndrome is a rare genetic condition that affects normal development of a growing fetus, most notably the cerebellum, a portion of the brain that controls balance, posture and motor learning. Infants with this disorder often have other other abnormalities associated with various organs such as the eyes, liver, ...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 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 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 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 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 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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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 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 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 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 munchausen syndrome?

Dr. Alan Ali Dr. Ali
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What are the symptoms of munchausen syndrome?

Munchausen synd.: Is a psychiatric illness where the person consciously fabricates illness or symptoms in order to assume the sick role. If is a severe form of factitious disorder, where person is described as a pathologic lier, has been hospitalized numerous times for vague complaints, is doctor shopping, and has high level of medical knowledge. Only treatment is setting limits & psychotherapy. ...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 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 symptoms of aspergers syndrome?

What are symptoms of aspergers syndrome?

Several: Aspergers is an autism spectrum disorder in which the most significant difficulty is with social interactions although the level and type of difficulty varies. There may be other issues such as anxiety, trouble with focus, ocd, sensory sensitivities and coordination problems. Cognitive functioning can be below, average or above average. Start with your primary provider if you have concerns. ...Read more

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What are the symptoms of asperger's syndrome?

See below:: Loneliness; impaired social interaction; impaired non-verbal communication; poor speech. Although there are many possible symptoms of asperger’s syndrome, the main symptom is significant trouble with social situations. ...Read more

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What are the symptoms of shy-drager syndrome?

What are the symptoms of shy-drager syndrome?

Shy-Drager: postural hypotension •orthostatic hypotension •autonomic failure •chronic constipationimpotenceurinary incontinence •impaired speech •breathing difficulties •swallowing difficulties •inability to sweat. ...Read more

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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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What are signs and symptoms of angelman syndrome?

What are signs and symptoms of angelman syndrome?

ANGELMAN SYNDROME: Angelman syndrome is a complex genetic disorder that affects the nervous system. Characteristic features of this condition include delayed development, intellectual disability, severe speech impairment, and problems with movement and balance. Most affected children also have recurrent seizures and a small head size. Delayed development becomes noticeable by the age of 6 and other S/S appear. ...Read more

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