Tag: life expectancy

Dravet Syndrome

Dravet syndrome is an uncommon genetic neurodevelopmental disorder starting in infancy and marked by multiple seizure types which may include deadly chronic seizures that need emergency medical care. The condition was first reported in 1978 by Dr. Charlotte Dravet, a French doctor. It is also known by other names, including PMEI/    polymorphic epilepsy in infancy, […]

Continue Reading

Sickle Cell Anemia

Sickle cell anemia is a hereditary type of anemia. Anemia is a blood disorder marked by deficient levels of RBCs and insufficient supply of oxygen across the body. The red blood cells/RBCs are normally circular and flexible, flowing freely via the blood vessels. In people with sickle cell anemia, the RBCs are sticky and stiff […]

Continue Reading

Know Your Pitbull Better

The Pitbull or American Pitbull Terrier (APBT) is one of the most ferocious breeds of dogs. They are medium in size and have a solid built with short hair as compared to other breeds and their ancestry can be traced England and Ireland. It belongs to the molosser breed group. The American Pit Bull Terrier have been bred […]

Continue Reading

Epidermolysis bullosa

Epidermolysis bullosa refers to a group of disorders that is inherited. It leads to blister formation and physical trauma. It is caused by mutations in 14 genes giving birth to other major diseases and risks for more complications or premature death. It is a chronic and autoimmune blistering disorder of the skin and the mucous […]

Continue Reading

Prader-Willi syndrome

Prader-Willi syndrome is a rare congenital disease marked by diverse physical, mental, and behavioral deficits. Affected children tend to suffer from insatiable hunger pangs, after they turn a year old. This unique feature persists for the lifetime of the patient. Continuous eating to quell the hunger pangs results in drastic weight gain, obesity, and varied […]

Continue Reading

Sturge-Weber Syndrome

Sturge-Weber syndrome, also called as ‘encephelotrigeminal angiomatosis’ is a disorder which is present from birth, but is not inherited. Sturge-Weber syndrome is an uncommon disorder and some features of this syndrome include anomalies of the nervous system and a congenital birthmark on the face. However, research studies show that skin injuries may occur due to […]

Continue Reading

Prader-Willi syndrome – Pictures, Symptoms, Causes, Treatment, Life Expectancy

What is Prader-Willi syndrome? It is an uncommon congenital condition that is characterized by presence of varied mental, physical, and behavioral abnormalities. One of the main features of Prader-Willi syndrome is a perennial sense of hunger which typically commences a year after birth. Individuals affected by Prader-Willi syndrome have a constant desire to keep eating and […]

Continue Reading

Wolf-Hirschhorn Syndrome

| By | 1 Comment

Wolf-Hirschhorn syndrome is a genetic condition that is present from birth. It is caused due to deletion of a section of chromosome 4. The disorder is characterized by a variety of unique symptoms and defects such as intellectual deficits, unusual facial features, seizures, severe developmental delays, and other kinds of congenital abnormalities. Wolf-Hirschhorn syndrome has […]

Continue Reading

Treacher Collins Syndrome

Treacher-Collins syndrome is an autosomal dominant condition that is present from birth and affects the growth of bones and other facial tissues. Treacher Collins syndrome is a very rare disorder and tends to affect about 1 in every 50,000 individuals. It is usually runs in families and is passed on from one generation to another. […]

Continue Reading

Down Syndrome – Pictures, Life Expectancy, Causes, Symptoms,Treatment

Down syndrome is a genetic disorder, caused due to abnormality in the cell division involving chromosome 21. The disorder causes a permanent developmental delay, mental retardation and many other problems. The severities of Down syndrome vary and as such the problems of developmental delays also vary from mild to serious conditions. Learning difficulties are the […]

Continue Reading