Tag: syndrome

DiGeorge Syndrome

DiGeorge syndrome is a congenital genetic condition marked by incomplete development of numerous body systems. It is caused due to deletion of a section of chromosome 22 and hence is medically referred to as 22q11.2 deletion syndrome. Before the discovery of chromosome 22 defect as the causative factor, DiGeorge syndrome was referred to by several […]

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Patau Syndrome

Patau syndrome is a hereditary disorder which occurs because of an extra copy of chromosome 13. Usually there are two copies of chromosome 13, but in this case, instead of 2 there are 3 copies. Patau syndrome is mostly called as Trisomy 13 wherein a part of chromosome 13, or whole, is three times more […]

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Guillain-Barre Syndrome

Guillain-Barre syndrome is a disease wherein the immune system of the body attacks the nerves. Initial symptoms include tingling and weakness feeling in the extremities of the body. Later, the sensations may spread to other parts of the body eventually resulting in complete paralysis. In very serious cases of this syndrome the affected person has […]

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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 […]

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Apert Syndrome

Apert Syndrome is an abnormal condition which elicits many different unique characteristics and symptoms. The anomalies associated with Apert syndrome occur because of early union or premature closure of specific joints connecting the skull bones that develop during normal growth of the brain and which divide the skeletal plates. Due to this craniofacial malformation, other […]

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POTS Syndrome

Postural orthostatic tachycardia syndrome or POTS refers to a group of conditions which have OI or orthostatic intolerance as their main symptom. Orthostatic intolerance refers to a disorder wherein there is drastic reduction in blood flow to the heart, when a person gets up into a standing after being a state of lying down. One […]

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Goldenhar Syndrome

Goldenhar syndrome is an unusual hereditary disorder which causes formation of abnormal ears, eyes, the mandible, nose, and lips.This type of disorder is also called as ‘Oculo-Auriculo-Vertebral (OAV) syndrome’ and it causes abnormal formation of 1st and 2ndbranchial archas well.The defects result in difficulties in opening the mouth, leading to other problems related to communication […]

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Proteus Syndrome

What is Proteus Syndrome? It  is a disease that results in abnormal growth of the skin, the bones and the head, along with several other accompanying symptoms. Michael Cohen Jr., DMD, PhD., was the first one to identify the condition in 1979. The condition got its name from Hans-Rudolf Wiedemann, a German pediatrician in the […]

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Sticker Syndrome

What is a Stickler Syndrome ? It s a condition that can result in severe problems of the eyes, ears and the joints. The condition is often referred to as hereditary progressive arthro-ophthalmopathy and is generally detected during childhood. Children affected by Stickler syndrome usually elicit unique facial characteristics such as a tiny nose, striking […]

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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 […]

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