Syndromes Medical Notes & Mindmap

Axenfeld Syndrome is a rare genetic condition that affects how the eye grows and develops. It is caused by problems with the coloured part of the eye (the iris) and…

The immune system and numerous endocrine glands are both impacted by the uncommon genetic condition known as APS-3, or autoimmunity polyendocrine syndrome type 3. The parathyroid, pancreas, and adrenal glands…

Asperger Syndrome is a neurodevelopmental disorder that makes it hard to get along with other people, do things over and over again, and understand nonverbal cues. People with Asperger Syndrome…

Ascher's Syndrome is a rare disease that causes the pancreas to get inflamed over and over again. The exact cause of the condition is unknown, but it is thought to…

Arterial Tortuosity Syndrome (ATS) is a rare genetic condition that affects the blood vessels in the body. It is marked by abnormal twisting and bending of the major arteries, which…

Aromatase excess syndrome is a rare genetic disorder that happens when the enzyme aromatase is made in too large of a quantity. This enzyme is what changes androgens, which are…

Ardalan–Shoja–Kiuru syndrome (ASKS) is a rare genetic disorder characterized by intellectual disability, developmental delay, and craniofacial and skeletal abnormalities.The specific symptoms and severity of the disorder can vary widely among…

Arakawa's syndrome is a rare inherited disorder characterised by abnormal nervous system development. It is also known as Aicardi-Goutières syndrome (AGS) and is classified into several subtypes, the most severe…

Apparent mineralocorticoid excess (AME) syndrome is a rare genetic disorder characterised by excessive aldosterone production, a hormone that regulates electrolyte balance and blood pressure.Excess aldosterone causes high sodium and low…

Apert syndrome is a rare genetic condition that causes the fusing of several bones in the head, hands, and feet too early. These bone fusions can result in anomalies in…

Aortocaval Compression Syndrome develops when the pregnant uterus compresses the vena cava, a major vein that transports blood from the lower half of the body to the heart. This compression…

Antley-Bixler syndrome is an uncommon genetic illness characterised by skull, face, and limb bone deformities. It is caused by mutations in the FGFR2 gene, which codes for a protein known…

Antisynthetase syndrome is a rare autoimmune condition defined by the existence of antibodies in the body that attack specific aminoacyl-tRNA synthetases (proteins that aid in protein synthesis). It is frequently…

Antiphospholipid syndrome (APS) is a condition in which the immune system creates antibodies that attack phospholipids, a form of fat that is a crucial component of cell membranes. Antiphospholipid antibodies…

Anterior spinal artery syndrome is a rare neurological condition that happens when the blood flow to the front of the spinal cord is cut off or damaged by a blocked…

Angelman syndrome is a rare genetic condition that affects the nervous system. It's marked by intellectual and developmental disabilities, severe speech problems, problems with balance and movement, and unique facial…

AIS, or androgen insensitivity syndrome, is a rare genetic disorder that disrupts sexual maturation in people who are destined to be men. Individuals with AIS are XY chromosome-positive (genetic males),…

Alien hand syndrome is a neurological condition in which one of a person's hands acts uncontrollably, as if it has its own mind. The hand may move or grip objects…

Alagille syndrome is a genetic condition that affects the liver, heart, and other organs. Alagille syndrome is characterised by a decreased number of bile ducts in the liver (cholestasis), cardiac…

Aicardi-Goutieres syndrome (AGS) is a rare genetic condition marked by the early onset of severe neurological issues, such as intellectual incapacity, mobility difficulties, and developmental delay. It is brought on…