Ehlers Danlos Syndrome

Ehlers Danlos syndrome (EDS) refers to a rare group of genetic conditions that adversely affect varied connective tissues, especially skin, blood vessel, and joints tissues. EDS associated genetic errors trigger problems in collagen production. It […]

What is CHARGE Syndrome?

CHARGE syndrome is a congenital genetic disorder marked by the occurrence of a diverse range of defects and disabilities. In fact, “CHARGE” is the abbreviated form of the varied abnormalities associated with the syndrome, as […]

Angelman Syndrome

Angelman syndrome is a congenital genetic disorder marked by developmental deficits and neurological problems like imbalance; speech problems; gait and walking issues; and seizures, etc. Most patients have a happy, affable, and excitable personality. They […]

Prader-Willi Syndrome

Prader-Willi syndrome is a rare, abnormal, congenital condition identified by the presence of mental, physical, and behavioral abnormalities, the most distinctive of which is continuous and insatiable hunger that commences after age one year and […]

Proteus Syndrome

Proteus syndrome is an uncommon state of abnormal growth. The developmental abnormalities associated with this syndrome can lead to unusual look and overgrowth of different parts of the body. The growth is not symmetric, which […]

Dandy Walker Syndrome

Dandy walker syndrome occurs when there are defects in some parts of the brain, particularly the cerebellum and surrounding areas. This condition causes a wide array of problems that can either be inconspicuous or obvious. […]

Russell Silver Syndrome

Russell Silver syndrome is a congenital disorder that leads to abnormal development of the body. Some of its distinctive features include short or stunted height, weak and non-standard development and growth, low weight during birth, […]

Fragile X Syndrome

‘Fragile X syndrome’ is also known as Fragile X. It is the most common genetic form of mental retardation. It occurs due to changes in a gene which is passed on from one generation to […]

Burning Sensation in Mouth, Tongue

There are many reasons of having burning sensation in mouth and throat. There can be mild causes of burning sensation in mouth and throat like drinking hot liquid, constipation, allergy, decay tooth and other more […]

Morquio Syndrome

Morquio syndrome is a problem that occurs when the body lacks or does not produce enough enzyme that will digest the long strands of sugar molecules. This would cause the sugar molecules to collect and […]

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