Syndrome Evaluation

Syndrome Evaluation

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Do you what is Achard Thiers Syndrome?

Do you what is Achard Thiers Syndrome?

Signs & Symptoms The original description and usual emphasis in this syndrome is on the affected individual as a bearded woman with diabetes mellitus. In older women, the first clinical symptoms are often those associated with classic diabetes and may include...
Do you know what is Achondrogenesis?

Do you know what is Achondrogenesis?

General Discussion Summary Achondrogenesis is a group of rare skeletal dysplasias characterized by extreme shortening of the arms and legs in relation to the trunk, abnormal development of ribs, vertebra and other skeletal abnormalities. The health problems associated...
Do you know what is Aceruloplasminemia?

Do you know what is Aceruloplasminemia?

General Discussion Aceruloplasminemia is a rare genetic disorder characterized by the abnormal accumulation of iron in the brain and various internal organs. Affected individuals develop neurological symptoms including cognitive impairment and movement disorders....
Do you know what is Achalasia?

Do you know what is Achalasia?

General DiscussionAchalasia is a rare disorder of the esophagus, the tube that carries food from the throat to the stomach. It is characterized by impaired ability to push food down toward the stomach (peristalsis), failure of the ring-shaped muscle at the bottom of...
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 Achondrogenesis?

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...
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