Angelman Syndrome
Angelman syndrome (AS) is a neuro-genetic disorder characterized by intellectual and developmental delay, sleep disturbance, seizures, jerky movements especially hand-flapping, frequent laughter or smiling, and usually a happy demeanour. An older, alternative term for this syndrome, happy puppet syndrome, is generally considered pejorative and stigmatizing and is no longer in current use.
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Yeast Infections Vaginal
Vaginal Yeast Infection or
Vaginal Candidiasis or
Vaginal Thrush is a
fungal infection or mycosis of vagina. It can be caused by any of the Candida specie. Candida albicans is the most common species which is most frequently encountered in the Infections. It leads to infections that may range from superficial infections like
oral thrush and vaginitis, to some serious systemic and life threatening diseases.
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Esophageal Varices
A complex of longitudinal tortuous veins at the lower end of the
esophagus, enlarged and swollen that are prone to ulceration and massive bleeding.
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Zinsser Cole Engman Syndrome
Zinsser Cole Engman Syndrome is also known as Cole's syndrome, Cole Rauschkolb Toomey syndrome, Hoyeraal Hreidarsson Syndrome, Zinsser's syndrome, Zinsser Fanconi Cole- Rauschkolb Toomey syndrome, Engman's syndrome, Dyschromatosis Universalis Hereditaria,
Dyskeratosis Congenita Syndrome, Dyskeratosis Congenita, Dyskeratosis Congenita (Autosomal Recessive), Dyskeratosis Congenita (Scoggins Type).
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Acid Beta glucosidase Deficiency
Acid- beta glucosidase deficiency is the most common of the lysosomal storage diseases. It is caused by a hereditary deficiency of the enzyme glucocerebrosidase (also known as acid รข-glucosidase), leading to an accumulation of its substrate, the fatty substance glucocerebroside. Fatty material can collect in the
spleen,
liver, kidneys, lungs, brain and
bone marrow.
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Angioedema Hereditary
Hereditary angioedema (HAE) is an autosomal dominant disorder of C1 inhibitor (C1-INH) deficiency manifested by painless, nonpruritic, and nonpitting swelling of the skin. In hereditary angioedema, specific stimuli that have previously led to attacks may need to be avoided in the future. Individuals with hereditary angioedema may also have systemic
lupus erythematosus or other
autoimmune disorders.
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Gillespie Syndrome
It is laso known as Aniridia, Cerebella Ataxia,
mental deficiency, Aniridia, Cerebella Ataxia, Mental Retardation,Partial Aniridia, Cerebella Ataxia, Mental Retardation,Partial Aniridia, Cerebella Ataxia, Oligophrenia
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Gilford Syndrome
It is also known as Hutchinson-Gilford progeria, Hutchinson-Gilford syndrome, Hutchinson-Gilford disease,Souques-
Charcot syndrome (a variant of this syndrome)
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Gilchrist Disease
It is also called as Chicago disease, Gilchrist?s
mycosis. It is a chronic granulomatous and suppurative systemic disease caused by the fungus Blastomyes dermatiditis.The skin lesions are charecterized by papules or papulopustules which develop in to crusted, warty eruptions and discharging
sinuses.
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Giant platelet syndrome
It is also called as
Bernard-Soulier syndrome. It usually occurs in newboen or early child hood. In this condition there will be lack of ability of the platelets to stick to the blood vessel which is injured resulting in abnormla bleeding.
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