Definition Xeroderma pigmentosum or XP, is a very rare inherited disease that causes extreme sensitivity to the sun’s ultraviolet rays. Unless patients with XP are protected from sunlight, their skin and eyes may be severely damaged. This damage may lead to cancers of the skin and eyes. XP has been …
Read More »Monkeypox – Symptoms, Causes, Diagnosis and Tests.
What is monkeypox? Monkeypox is a rare disease caused by the monkeypox virus. It leads to rash and flu-like symptoms. Like the better known virus that causes smallpox, it is a member of the family called orthopoxvirus. It was discovered in 1958 when two outbreaks of a pox-like disease occurred …
Read More »Hypoplastic Left Heart Syndrome (HLHS) – Overview
Definition Hypoplastic left heart syndrome (HLHS) is one of the most complex cardiac defects seen in the newborn. It is one of the most challenging to manage of all congenital heart defects. It is one of a group of cardiac anomalies that can be grouped together under the description single …
Read More »Nephrocalcinosis – Summary, Pathophysiology, and Prevention.
Nephrocalcinosis – Summary Nephrocalcinosis is a disorder that occurs when too much calcium is deposited in the kidneys. It commonly occurs in premature infants. Individuals may not have symptoms or may have symptoms related to the condition causing Nephrocalcinosis. If kidney stones are present, symptoms may include blood in the …
Read More »Arthrogryposis – Types, Risk Factors and Treatment
Definition Arthrogryposis, also known as arthrogryposis multiplex congenita or AMC, is a birth defect in which a child has various joints that are tight (contracted) with decreased motion, stiffness, deformity, and difficulty with function. The incidence for this is one in 3,000 live births. It is not a progressive disorder. …
Read More »Cyclosporiasis – Treatment, Prevention, and Diagnosis.
What is Cyclosporiasis? Cyclosporiasis is a parasitic infection in the intestines that can cause symptoms such as watery diarrhea and stomach pain. Cyclosporiasis is most common in tropical or subtropical areas and regions of poor sanitation. The most commonly involved areas for United States citizens are Mexico, Peru, and Guatemala. …
Read More »Lipodystrophy – Types, Risk Factors, Causes and Prevention
What is Lipodystrophy? Lipodystrophy syndromes are rare disorders marked by a lack of body fat just beneath the skin’s surface. Which type a person has is determined by the patterns of fat loss on the body and whether the disease is acquired or genetic. Due to the body’s inability to …
Read More »Hirschsprung’s disease – Types, Pathophysiology, and Treatment
Definition Hirschsprung’s disease is a rare birth defect that affects the large intestine (bowel). It is caused by missing some or all of the nerve cells in your intestine. Nerve cells are important because they tell your intestine to push stools through your bowel. This condition occurs while a baby …
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