Pseudoxanthoma Elasticum: Causes, Symptoms, Treatment, Diagnosis, Prognosis

What is Pseudoxanthoma Elasticum? Pseudoxanthoma elasticum (PXE) is an extremely uncommon genetic disorder; so uncommon that about 97% of people worldwide have never heard of...

Gamstorp Disease: Symptoms, Causes, Treatments, Risk Factors

What is Gamstorp Disease? Gamstorp disease is also known as HYPP or HyperKPP or Hyperkalemic periodic paralysis and it is an inherited autosomal dominant disorder...

What is Hallervorden-Spatz Disease & How is it Treated? | Causes, Symptoms, Diagnosis of...

What is Hallervorden-Spatz Disease? Hallervorden-Spatz disease is a genetic disorder that involves progressive neurological degeneration along with the accumulation of iron in the brain.(1) It is...

What is Phocomelia, Know its Causes, Symptoms, and Treatments

What is Phocomelia? Phocomelia is a rare congenital disorder that leads to short limbs. It is present at birth. The types and severity vary which means...

Role of Genes in Alzheimer’s Disease & Its Causes, Symptoms, Treatment

Alzheimer’s disease affects all the major functions of the brain. It alters negatively in calculative operations, reasoning, and decision making and instills forgetfulness and...

Oral-Facial-Digital Syndrome (OFDS) Type II

What is Oral-Facial-Digital Syndrome Type 2 or OFSD Type II? Oral-facial-digital syndrome type 2 or OFSD Type II is an assorted group of disorders that...

What is Jarcho-Levin Syndrome: Symptoms, Causes, Treatment, Prognosis, Diagnosis

What is Jarcho-Levin Syndrome? Jarcho-Levin Syndrome is an autosomal recessive genetic disorder and is hence, a condition present by birth. It causes the malformation of...

What is Branchiootorenal Spectrum Disorder & How is it Treated?| Causes, Symptoms, Treatment, Epidemiology,...

What is Branchiootorenal Spectrum Disorder or BORSD? The Branchiootorenal Spectrum Disorder is a rare genetic condition that is an autosomal dominant genetic condition. This is...

Bowen Hutterite Syndrome: Causes, Symptoms, Treatment, Epidemiology, Diagnosis

What is Bowen Hutterite Syndrome The Bowen Hutterite Syndrome is one of the rare genetic conditions that become rather prominent right at the time of...

What Causes Androgen Insensitivity Syndrome & How Is It Treated?

Androgen Insensitivity Syndrome Androgen Insensitivity Syndrome is a pathological condition characterized by the inability of the body to respond normally to androgen, which is primarily...

Is There A Genetic Factor For How Much Sleep You Need?

Is There A Genetic Factor For How Much Sleep You Need? Everyone knows the importance of sleep for your health. However, in today's busy and...

What Is the Best Treatment For Niemann Pick Disease?

Niemann Pick Disease is a type of genetic medical condition. The disease mainly occurs in four different variants i.e. types A, B, C, and...

What Are The First Symptoms Of Niemann Pick Disease & How Do You Test...

Niemann Pick Disease (abbreviated as NPD) implies a group of diseases, which passed down from inherited families, where fatty substances i.e. lipids accumulate within...

What Leads To Niemann Pick Disease & Can It Be Cured?

Niemann Pick disease refers to a group of severe and inherited metabolic disorders. In this type of disease, sphingomyelin accumulates within lysosomes in human...

Is Niemann Pick Disease Fatal & Is It Dominant Or Recessive?

Niemann Pick is an inherited and rare type of disease, which affects the ability of a person to metabolize fat i.e. lipids and cholesterol...
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