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Apparent mineralocorticoid excess syndrome; Other names: AME, 11-beta-hydroxysteroid dehydrogenase deficiency type 2, Ulick syndrome. Apparent mineralocorticoid excess syndrome has an autosomal recessive pattern of inheritance: Specialty: Medical genetics, endocrinology Symptoms: Hypertension, hypokalemia, metabolic alkalosis, and low plasma ...
Timothy James Walz (/ w ɔː l z / ⓘ WAWLZ; born April 6, 1964) is an American politician, former schoolteacher, and retired U.S. Army non-commissioned officer who has served as the 41st governor of Minnesota since 2019.
Mal de debarquement syndrome (or syndrome du mal de débarquement, MdDS, or common name disembarkment syndrome) is a neurological condition usually occurring after a cruise, aircraft flight, or other sustained motion event.
Bardet–Biedl syndrome is a pleiotropic disorder with variable expressivity and a wide range of clinical variability observed both within and between families. The most common clinical features are rod–cone dystrophy, with childhood-onset night-blindness followed by increasing visual loss; postaxial polydactyly; truncal obesity that manifests during infancy and remains problematic ...
Medical treatment is attempted first in many cases. In some cases, emergency surgery is necessary upon presentation. [11] A six-week trial of medical treatment is recommended in pediatric cases. [5] The goal of medical treatment for SMA syndrome is resolution of underlying conditions and weight gain.
Sanfilippo syndrome, also known as mucopolysaccharidosis type III (MPS III), is a rare genetic disease that mainly affects the brain and spinal cord.It is caused by a problem with how the body breaks down certain large sugar molecules called glycosaminoglycans (also known as GAGs or mucopolysaccharides).
Smith–Magenis syndrome (SMS), also known as 17p- syndrome, is a microdeletion syndrome characterized by an abnormality in the short (p) arm of chromosome 17. [1] It has features including intellectual disability , facial abnormalities, difficulty sleeping, and numerous behavioral problems such as self-harm.
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