disorders

TAR Syndrome

TAR syndrome (thrombocytopenia with absent radius) is a rare genetic disorder that is characterized by the absence of the radius bone in the forearm and a dramatically reduced platelet count.

Posted September 17, 2022 by Anusha ‐ 2 min read

diseases treatments syndromes disorders health tar-syndrome

CHILD Syndrome

CHILD syndrome (an acronym for congenital hemidysplasia with ichthyosiform erythroderma and limb defects) is an inherited disorder, affecting primarily women, that is characterized by ichthyosis-like skin abnormalities and limb defects on one side of the body. Other abnormalities may be present, as well.

Posted September 18, 2022 by Anusha ‐ 3 min read

diseases treatments syndromes disorders health child-syndrome

Larsen Syndrome

Larsen syndrome is a rare genetic disorder that has been associated with a wide variety of different symptoms. Characteristic findings of the disorder include dislocations of the large joints, skeletal malformations, and distinctive facial and limb features.

Posted September 18, 2022 by Anusha ‐ 3 min read

diseases treatments syndromes disorders health larsen-syndrome

PAPA Syndrome

PAPA syndrome is inherited in an autosomal dominant fashion, which means that there is a 50% chance that a child will inherit the disease from an affected parent. It usually begins with arthritis at a young age, with the skin changes more prominent from the time of puberty.

Posted September 18, 2022 by Anusha ‐ 2 min read

diseases treatments syndromes disorders papa-syndrome health

Nelson's Syndrome

Nelson's syndrome is a disorder that occurs in about one in four patients who have had both adrenal glands removed to treat Cushing's disease. In patients with pre-existing adrenocorticotropic hormone (ACTH)-secreting pituitary adenomas, loss of adrenal feedback following bilateral adrenalectomy can trigger the rapid growth of the tumor, leading to visual symptoms (e.g. bitemporal hemianopsia) and hyperpigmentation.

Posted September 18, 2022 by Anusha ‐ 2 min read

diseases treatments syndromes disorders health

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