Rare Diseases

Turner Syndrome – 115 Symptoms and Signs and Prognosis

What is Turner Syndrome Turner syndrome is a rare genetic disorder which is chromosomal. This syndrome usually affects female gender. The characteristics of Turner syndrome include partial or total loss of one of the secondary sex chromosomes, which is called as monosomy.  Synonyms 45 X syndrome Bonnevie-Ullrich syndrome Monosomy X Ullrich-Turner syndrome 46,XX syndrome Symptoms …

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Lichen Sclerosis – 8 Specific Symptoms and signs and Treatment

What is Lichen Sclerosis Lichen sclerosus is a type of skin disease. This condition is a chronic inflammatory disease. The disorder most commonly affects women either before puberty or may be after menopause. Rarely, Lichen sclerosus has been reported in men. Symptoms of Lichen Sclerosis Intense itching, burning, and pain around external genitalia (vulva or …

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Addisons Disease (AD) – 49 Symptoms and Signs, Prevalence, Prognosis, Treatment

What is Addisons Disease (AD) Addisons Disease is a rare endocrine disorder. Usually this condition is chronic i nature. This disorder is due to autoimmune destruction of a structure in a gland in the body known as adrenal gland, this structure is the adrenal cortex. This process leads to deficiency of certain hormones called glucocorticoid …

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Hallermann Streiff Syndrome (HSS) – 50 Symptoms and Signs, “bird faced but not bird brained”

What is Hallermann Streiff Syndrome (HSS) Hallermann Streiff syndrome is a rare congenital disorder which typically affects the development of head and face. The hallmarks of Hallermann Streiff Syndrome affected individuals are typical a ‘bird-like’ face with craniofacial malformations, sparse hair, degenerative skin changes, eye abnormalities, dental defects, and proportionate short stature. HSS was first …

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cpz (Carboxypeptidase Z) – Responsible for 4 diseases, Interesting facts

What is cpz (Carboxypeptidase Z) cpz is located on the chromosome 4p16.1 cpz is a newly reported member of the CPE, which is the subfamily of metallocarboxypeptidases. Carboxypeptidase Z was discovered during a search for novel carboxypeptidases which can compensate for defective carboxypeptidase E in Cpe  mice. Members of this metallocarboxypeptidases constitutes a 350 to 400 …

cpz (Carboxypeptidase Z) – Responsible for 4 diseases, Interesting facts Read More »

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