Syndrome Evaluation

Syndrome Evaluation

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Do you know what is Acanthocheilonemiasis?

Do you know what is Acanthocheilonemiasis?

General Discussion Acanthocheilonemiasis is a rare tropical infectious disease caused by a parasite known as Acanthocheilonema perstans, which belongs to a group of parasitic diseases known as filarial diseases (nematode). This parasite is found, for the most part, in...
Do you know what is Ablepharon-Macrostomia Syndrome?

Do you know what is Ablepharon-Macrostomia Syndrome?

General Discussion Summary Ablepharon-macrostomia syndrome (AMS) is a rare genetic disorder characterized by absent or underdeveloped eyelids (ablepharon or microblepharon) and a wide mouth (macrostomia). Characteristics mainly involve the face and skin and rarely...
Do you know what is Abetalipoproteinemia

Do you know what is Abetalipoproteinemia

Abetalipoproteinemia is a rare inherited disorder affecting fat absorption by the intestine and mobilization by the liver. Inability to absorb fat results in deficiencies of lipids and various essential vitamins. Affected individuals experience progressive...
Do you know what is 48, XXYY Syndrome?

Do you know what is 48, XXYY Syndrome?

48, XXYY Syndrome Synonyms of 48, XXYY Syndrome: XXYY syndrome, 48, XXYY variant of Klinefelter syndrome, 48, XXYY Klinefelter syndrome. 48, XXYY is a genetic disorder that occurs in males and is characterized by additional sex chromosomes compared to the typical male...
Do you know what is 47,XXY (Klinefelter Syndrome)?

Do you know what is 47,XXY (Klinefelter Syndrome)?

Synonyms of 47,XXY (Klinefelter Syndrome): KS, XXY male. Klinefelter Syndrome (47, XXY) is a chromosomal variation in males in which one extra X chromosome is present, resulting in a 47,XXY karyotype. The extra X chromosome typically affects physical,...
Do you know what is Acidemia, Methylmalonic?

Do you know what is Acidemia, Methylmalonic?

General Discussion The methylmalonic acidemias are organic acidemias caused by an enzymatic defect in the metabolism of four amino acids (methionine, threonine, isoleucine and valine). This results in an abnormally high level of acid in the blood (academia) and body...
Do you know what is Acidemia, Methylmalonic?

Do you know what is Autoimmune Polyglandular Syndrome Type 1?

Autoimmune Polyglandular Syndrome Type 1 NORD gratefully acknowledges Noel K. Maclaren, MD, Clinical Professor of Pediatrics, Weill College of Medicine of Cornell University, Director of BioSeek Endocrine Clinics, for assistance in the preparation of this report....
Do you know what is Geotherapy

Do you know what is Geotherapy

Geotherapy, also known as clay wrap or clay poultice, is an alternative medicine technique that uses hot clay to relieve muscle pain and tension. This therapy works not only because of the heat of the hot clay, but also because of the anti-inflammatory properties...
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