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Doctor insights on: What Is Digeorge Syndrome

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What is turner syndrome?

What is turner syndrome?

Turners Syndrome: Turner syndrome is caused in females when there is absence of one xchromosime, the girls are born with one x chromosome and the features are.Short stature, broad chest, low hairline, low set ears and webbed neck.There is non functioning ovaries and they do not get menstruation.They are more prone to congenital heartdisease, hypothyriodism, diabetes and few other conditions. ...Read more

Dr. Steven Neish
13 doctors shared insights

Digeorge Syndrome (Definition)

A disorder caused by a defect in Chromosome 22 that results in the poor development of several body systems, leading to medical problems such as heart defects, poor immune system function, ...Read more


Dr. Paul Grin Dr. Grin
2 doctors agreed:
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What is noonan syndrome?

Dr. Paul Grin Dr. Grin
2 doctors agreed:
What is noonan syndrome?

Noonan syndrome: is a common genetic disorder that involves unusual facial characteristics, short stature, heart defects present at birth. ...Read more

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What is may-turner syndrome?

What is may-turner syndrome?

Compressed iliac vei: May- thurner syndrome classically refer to a compression of the left common iliac vein by the iliac artery . This result in left leg pain, swelling and deep vein thrombosis. It has now been expanded and is now called non thrombotic iliac vein lesions (nivl), to include both the right and left iliac veins.). ...Read more

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What is prader-willi syndrome?

What is prader-willi syndrome?

Genetic anomaly: Kids with prader willi syndrome usually obtain the genetic analy from the paternal gene. It is characterized by problems with muscle tone, even noticeable during pregnancy, also due to this difficulty feeding , poor weight gain, as infants. This changes after age 2 when kids develop over eating that can lead to morbid obesity. Also found are; scoliosis, cognitive problems, delayed puberty, etc. ...Read more

Dr. Alan Ali Dr. Ali
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What is angelman syndrome?

Dr. Alan Ali Dr. Ali
1 doctor agreed:
What is angelman syndrome?

Angelman syndrome: It is a Neuro-genetic disorder resulting from abnormality of genes on Chromosome 15 . ...Read more

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What is rett syndrome?

What is rett syndrome?

Complex genetic prob: Rett syndrome is a disorder of the nervous system that leads to developmental reversals, especially in the areas of expressive language and hand use.Rett syndrome occurs almost exclusively in girls and may be misdiagnosed as autism or cerebral palsy.Studies have linked many rett syndrome cases to a defect in the mecp2 gene. This gene is on the x chromosome. Females have two xs. Males do not live. ...Read more

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What is edwards syndrome?

What is edwards syndrome?

Early Chromosome DX: Dr edwards reported of the features of trisomy 18 in 1960 in the british journal the lancet. Drs patau & smith reported it in the same journal edition but the name edward syndrome has stuck. This was soon after the methods for preparing & counting chromosomes was available in research labs starting in the late 1950's. ...Read more

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What is zellweger syndrome?

What is zellweger syndrome?

A leukodystrophy: A genetic condition named after a researcher, zellweger's is a rare leukodystrophy (ld). Lds are a family of congenital disorders with abnormal development and function of the white matter of the brain but they can affect other organs as well. The term syndrome refers to a pattern of physical findings, including unusual craniofacial features, large liver, and eye abnormalities. There is no cure. ...Read more

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What is Parsonage-Turner syndrome?

I looked it up: This syndrome can begin with severe shoulder or arm pain followed by weakness and numbness[Those who suffer from Parsonage–Turner experience acute, sudden-onset pain radiating from the shoulder to the upper arm. Affected muscles become weak and atrophied.. This is from Wikipedia - I had never heard of it ...Read more

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What is Klippel-Trenaunay-Weber syndrome?

What is Klippel-Trenaunay-Weber syndrome?

Klippel-Trenaunay-Weber Syndrome: Klippel-Trenaunay-Weber Syndrome is a rare vascular congenital condition due to improper formation of blood and/or lymphatic vessels. It has three features: Port Wine Stain (nevus flammeus or capillary hemangioma), venous or/and lymphatic malformations, and enlargement (soft-tissue hypertrophy) of the affected extremity. ...Read more

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What is Klippel-Trenaunay-Weber syndrome?

What is Klippel-Trenaunay-Weber syndrome?

KTW syndrome: KTW is a rare defect involving capillary abnormalities, enlargement of one leg, an atypical varicosity on the lateral side and arteriovenous malformation. ...Read more

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What is eisenmenger syndrome?

What is eisenmenger syndrome?

A shunt disorder: It is a congenital disorder that results first from flow from the left side of the heart to the right through a defect (ventricular, atrial, septal, or patent ductus arteriosus); that causes already oxygenated blood to return through the lungs again and increases both the blood pressure in the lungs (pulmonary hypertension) and results in very high red blood cell counts... And eventually death. ...Read more

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What is mrkh syndrome?

What is mrkh syndrome?

MRKH Syndrome: Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome - the vagina & uterus are underdeveloped or absent. ...Read more

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What is wernkes syndrome?

What is wernkes syndrome?

Wernicke?: Neurological problems of the brain associated with alcoholism and nutritional deficiency, such as low thiamine. Associated problems may involve eyes, memory, coordination, and behaviour. Much may reverse with treatment, but the best approach is to stop alcohol intake. ...Read more

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What is klippel-feil syndrome?

What is klippel-feil syndrome?

Rare disease: Klippel-Feil syndrome is characterized by the congenital fusion of several of the cervical vertebrae. It is a congenital defect in formation of the cervical vertebral segments. People with it have a short neck, low hairline and limited movement of the spine. Surgery may be necessary for spinal stenosis or severe scoliolsus. It is not inherited. ...Read more

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What is WAGR syndrome?

What is WAGR syndrome?

Http://en.wikipedia.org/wiki/WAGR_syndrome: WAGR syndrome is a rare genetic syndrome in which affected children are predisposed to develop Wilms tumour (a tumour of the kidneys), Aniridia (absence of the coloured part of the eye, the iris), Genitourinary anomalies, and Retardation.[1] The G is sometimes instead given as "gonadoblastoma," since the genitourinary anomalies are tumours of the gonads (testes or ovaries).[2] per wikipedia ...Read more

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What is Marfan syndrome?

What is Marfan syndrome?

Genetic disorder: Of connective tissue that affects many bodily systems.The national marfan foundation has a very nice website that will answer any questions you have about marfan syndrome. Go to www.Marfan.Org. ...Read more

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What is turners syndrome prognosis?

What is turners syndrome prognosis?

Turner's Syndrome: The prognosis for turner's syndrome diagnosed at birth is usually good. They will be short. They have streaked gonads. They can have a webbed neck. There can be lymphedema. There can be associated perceptual problems. They are not necessarily mentally retarded. There can be coarctation of the aorta. ...Read more

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What is May-Thurner syndrome?

What is May-Thurner syndrome?

May-Thurner: this is classically described as compression of the left iliac vein underneath the left iliac artery. This can lead to narrowing of the deep venous system, leading to swelling of the left lower extremity with associated varicose veins. A CT scan would be helpful in determining if this is the case, and then stenting of the narrowed iliac vein would be recommended. ...Read more

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