Category: Syndromes

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, […]

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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 […]

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Beckwith-Wiedemann Syndrome

Beckwith-Wiedemann syndrome is a hereditary overgrowth disease that affects a baby from the time it is born. It occurs along with a high risk of cancer development as well as inheriting certain unusual characteristics, including ear pits or ear creases, macrosomia, anomalies of the midline abdominal lining or wall, macroglossia, and congenital instances of low […]

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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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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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Asperger’s Syndrome

Asperger’s Syndrome refers to the less severe type of developmental disorder affecting the ability of an individual to communicate and socialize with others effectively. People with this type of disorder find it difficult to communicate with others verbally or non-verbally. They even find it hard to initiate and keep conversations going as well as use […]

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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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Locked-In Syndrome

Locked-in syndrome is a neurological condition that features paralysis or a complete lack of movement of all the voluntary muscles in the different parts of the body, the only exception being the muscles that control the movement of the eye. It is a very rare disorder. Some of the possible causes that may result in […]

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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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