diseases
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
Plummer Vinson Syndrome
Plummer–Vinson syndrome is a rare disease characterized by difficulty swallowing, iron-deficiency anemia, glossitis, cheilosis and esophageal webs.
Posted September 23, 2022 by Anusha ‐ 2 min read
⌖ diseases treatments syndromes disorders plummer-vinson-syndrome health
Parry Romberg Syndrome
Parry-Romberg syndrome is a rare, acquired disorder characterized by slowly progressive shrinkage (atrophy) of the skin and soft tissues of half of the face (hemifacial atrophy).
Posted September 23, 2022 by Anusha ‐ 3 min read
⌖ diseases treatments syndromes disorders progressive-facial-hemiatrophy progressive-hemifacial-atrophy health hemifacial-atrophy parry-romberg-syndrome prs romberg-syndrome