Category: Syndromes

Waardenburg Syndrome

Waardenburg Syndrome

Waardenburg syndrome is a group of genetic disorders which is evident from birth (congenital). The syndrome causes deafness, change in color of skin, hair and eye. Waardenburg condition is named after a Dutch eye doctor, Petrus Johannes Waardenburg (1886-1976) who was the first person to notice patients suffering from hearing loss and change in color […]

Treacher Collins Syndrome

Treacher Collins Syndrome

Treacher Collins syndrome, also known as mandibulofacial dysostosis, is a rare genetic disorder. This condition affects the growth and development of bones and other tissues of the face. It is estimated to affect one in every 40,000 to 70,000 of live births. Most commonly, the chin bone and the lower jaw bones are affected, presenting […]

Levator Ani Syndrome

Levator Ani Syndrome

The levator ani is a major muscle present within the pelvic area. It lowers and elevates the anal sphincter as well as relaxes and tightens for numerous bodily tasks and functions. Levator ani syndrome is a type of persistent proctalgia that is marked by constant rectal pain. It is differentiated from non-specified functional anal-rectal pain […]

Superior Mesenteric Artery Syndrome

Superior mesenteric artery syndrome is a deadly but uncommon gastro-vascular condition marked by constriction of the 3rd section of the duodenum by the overlying SMA or superior mesenteric artery and the AA or abdominal aorta. The condition generally occurs due to an angle of 6 to 25 degrees between the SMA and the AA, as […]

Pronator Teres Syndrome

Pronator Teres Syndrome

Pronator teres syndrome or PTS is a condition marked by compression of the median nerve located near the elbow. The entrapped nerve goes through the 2 sections of the pronator teres muscle in the hand, thereby resulting in numbness, pain, and tingling sensation in the hand and forearm. The condition is more common in individuals […]

Dandy Walker Syndrome

Dandy Walker Syndrome

Dandy Walker syndrome is a disorder of the brain that is present from birth. Patients will elicit abnormalities in the cerebellum as well as in the cerebrospinal fluid filled areas in and surrounding the cerebellum. It is named after Walter Dandy and Arthur Walker who are regarded as the founders of neurosurgery. Dandy Walker syndrome […]

Rett Syndrome

Rett Syndrome

Rett syndrome is a rare genetic disorder marked by abnormal development of the brain. Females are predominantly affected by the condition than males. In the initial phases of growth post birth, Rhett syndrome babies tend to elicit normal development. The adverse symptoms of the condition are typically observed six months after delivery. As the affected […]

Down Syndrome

Down Syndrome

Also called Trisomy 21, Down syndrome is a congenital genetic disorder marked by developmental delays, mental retardation, and other abnormalities. The severity of the condition varies from one patient to another; hence the associated disabilities also tend to vary between patients, from moderate to extreme. Risk Factors Down syndrome is caused due to presence of […]

Williams Syndrome

Williams Syndrome

Williams syndrome is a rare, congenital, and complex genetic disorder marked by physical and developmental abnormalities, the most evident of which is the presence of narrowed arteries which in turn trigger the onset of cardiovascular diseases. Affected infants may also suffer from very high blood calcium levels. The outward symptoms of Williams syndrome that are […]