treatments

Kallmann Syndrome

Kallmann syndrome is a condition that’s characterized by absent or delayed puberty and a lack or loss of sense of smell. Kallmann syndrome may be accompanied by other symptoms, including hearing loss and cleft palate. The condition is typically treated with hormone replacement therapy.

Posted September 23, 2022 by Anusha ‐ 2 min read

diseases treatments syndromes disorders health kallmann-syndrome

Peutz Jeghers Syndrome

Peutz-Jeghers syndrome (PJS) is a condition where people develop characteristic polyps and dark-colored spots and have an increased risk of certain types of cancer.

Posted September 23, 2022 by Anusha ‐ 2 min read

diseases treatments syndromes disorders health peutz-jeghers-syndrome

Congenital Erythropoietic Porphyria

Congenital erythropoietic porphyria (CEP) is a very rare inherited metabolic disorder resulting from the deficient function of the enzyme uroporphyrinogen III synthase (UROS), the fourth enzyme in the heme biosynthetic pathway.

Posted September 23, 2022 by Anusha ‐ 3 min read

diseases treatments syndromes disorders cep gunther-disease uros-deficiency congenital-erythropoietic-porphyria uroporphyrinogen-iii-synthase-deficiency health

Stevens Jhonson Syndrome

Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN) are serious skin conditions that cause your skin to develop rashes, blisters, and then peel. Your mucus membranes, including your eyes, genitalia and mouth, are also affected.

Posted September 23, 2022 by Anusha ‐ 2 min read

diseases treatments syndromes disorders health stevens-jhonson-syndrome

William's Syndrome

Williams syndrome, also known as Williams-Beuren syndrome, is a rare, neurodevelopmental, genetic condition characterized by many symptoms including unique physical features, delayed development, cognitive challenges and cardiovascular abnormalities.

Posted September 23, 2022 by Anusha ‐ 2 min read

diseases treatments syndromes disorders health

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