Tag Archives: Birth Defects

Barth Syndrome

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Barth syndrome is a genetic disorder occurring in 1 in 300000 live births. It is a disorder found in males only. Medical research indicates that most male children identified with this syndrome rarely have a life expectancy beyond 3 years although there have been patients reaching adolescence. Barth syndrome was …

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Bardet Biedl Syndrome

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Bardet Biedl syndrome (BBS) is a genetic disorder that affects the brain. It affects vision and caused intellectual impairment. This syndrome may also cause obesity, renal disease, and extra digits on the hands and feet. It is a genetically heterogeneous condition as it occurs due to more than one known …

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Arthrogryposis

Arthrogryposis

Arthrogryposis is a rare genetic disorder occurring in 1 in 3000 live births. This disorder is thought to be caused due to genetic factors or due to the mal effects of some drugs. In these nerves, muscle and tissue develop abnormally causing multiple joint contractures and malformed limbs. The muscles …

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Atrial Septal Defect

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Atrial Septal Defect (ASD) is a deformity of the heart in which the wall separating the upper heart chambers does not close completely. This opening in the heart is present in all fetuses and eases pressure on the baby’s lungs and helps in strengthening them. Around the time of birth, …

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Cat Eye Syndrome

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Cat-eye syndrome is a genetic disorder occurring in 1 in 75000 births. The disorder is named due to the feline appearance of the eyes. This defect may occur in one eye or in both eyes.  Symptoms of Cat eye syndrome:   Symptoms appearing in 41 percent of people afflicted with Cat …

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