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Dandy-Walker Syndrome: Causes, Symptoms, Diagnosis, Treatment, Outlook

What is Dandy-Walker Syndrome? Dandy walker syndrome is a congenital condition in which a part of the baby’s brain does not develop properly. This can...

Hereditary ATTR Tests: Uses and Procedures

Hereditary amyloid transthyretin (ATTR) amyloidosis is a rare disorder that develops due to a buildup of amyloid proteins in the body. ATTR is a...

What is Ectodermal Dysplasia?|Causes, Classification, Symptoms, and Treatment of Ectodermal Dysplasia

Ectodermal dysplasia is a broad term used to describe a rare group of genetic or inherited disorders characterized by defects in hair, nails, and...

Trimethylaminuria : What Is Fish Odor Syndrome & What Makes A Person Smell Like...

What is Trimethylaminuria (TMAU) or Fish Odor Syndrome? Trimethylaminuria is a rare and intriguing medical condition that causes the saliva, breath, sweat and pee to...
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Mixed Hyperlipidemia: Causes, Risk Factors, Diagnosis, Treatment, Outlook

What is Mixed Hyperlipidemia? Mixed hyperlipidemia is a genetic disorder that can pass from parents to children. People with this condition have higher than average...

What Causes Costello Syndrome & How is it Treated? | Symptoms and Diagnosis of...

What is Costello Syndrome? Costello Syndrome is a rare genetic abnormality which affects multiple vital organs of the body. Costello Syndrome causes delays in growth...

Epidermodysplasia Verruciformis: Causes, Symptoms, Treatment

What is Epidermodysplasia Verruciformis? Epidermodysplasia Verruciformis is a genetically inherited immune condition which makes the affected people prone to chronic HPV infections. In majority of...

What is Blau Syndrome: Causes, Symptoms, Treatment, Prognosis

What is Blau Syndrome? Blau Syndrome is an extremely rare genetic auto-antiinflammatory disorder which is characterized by recurrent granulomatous uveitis, dermatitis, and symmetric arthritis. It...

Piebaldism: Causes, Symptoms, Treatment

What is Piebaldism? Piebaldism is a rare genetic disorder the symptoms of which can be easily observed at the time of the birth of the...

What is Basal Cell Nevus Syndrome & How is it Treated? | Causes, Symptoms...

Basal cell nevus syndrome is a rare autosomal dominant cancer genetic syndrome and is also known as Gorlin syndrome. In this article, we will...

Can HLA B27 Change From Positive To Negative & Are You Born With HLA...

Can HLA B27 Change From Positive To Negative? Have you or anyone you know experienced this? After having a positive HLA-B27 test, has it tuned...

What Does It Mean If You Are HLA B27 Positive?

HLA-B27 is an antigen and the test for this is also known by names, such as histocompatibility leukocyte A antigen; human leukocyte A antigen...

What Causes Protein C Deficiency And What To Do About It?

About Protein C Deficiency: Protein C is extremely vital for the body. It promotes wound healing by regulating blood clots. If a person is protein...

What is Hyperekplexia & How is it Treated? | Causes and Symptoms of Hyperekplexia

What is Hyperekplexia? Hyperekplexia is an extremely rare neurological disorder that is inherited and is seen mostly in newborns but children and adults may also...

Acute Hepatic Porphyria: Symptoms, Diagnosis, Treatment, Management

What is Acute Hepatic Porphyria(AHP)? Acutehepatic porphyria is a rare genetic disorder that is associated with abdominal pain and issues and problems with the central...
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