diseases

Chediak Higashi Syndrome

Albinism is a lack of color in the skin, hair, and eyes. Chediak-Higashi syndrome (CHS) is an extremely rare form of partial albinism that’s accompanied by problems with the immune and nervous systems.

Posted September 23, 2022 by Anusha ‐ 2 min read

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Nevoid Basal Cell Carcinoma Syndrome

Nevoid basal-cell carcinoma syndrome (NBCCS) is an inherited medical condition involving defects within multiple body systems such as the skin, nervous system, eyes, endocrine system, and bones. People with this syndrome are particularly prone to developing a common and usually non-life-threatening form of non-melanoma skin cancer.

Posted September 24, 2022 by Anusha ‐ 2 min read

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Rubinstein Taybi Syndrome

Posted September 24, 2022 by Anusha ‐ 4 min read

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MEN Type - 1

Multiple endocrine neoplasia type 1 (MEN1) is a rare genetic disorder that mainly affects the endocrine glands NIH external link. Located in different parts of the body, these glands control the production of hormones that direct many body processes, including growth, digestion, and sexual function.

Posted September 24, 2022 by Anusha ‐ 3 min read

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MEN Type 2

Multiple endocrine neoplasia type 2 (MEN2) is a rare genetic polyglandular cancer syndrome, characterized by the 100% prevalence of medullary thyroid carcinoma (MTC) and an increased risk of develop other specific tumors affecting additional glands of the endocrine system.