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Holt–Oram syndrome (also called atrio-digital syndrome, atriodigital dysplasia, cardiac-limb syndrome, heart-hand syndrome type 1, HOS, ventriculo-radial syndrome) is an autosomal dominant disorder that affects bones in the arms and hands (the upper limbs) and often causes heart problems. [1] The syndrome may include an absent radial bone in ...
Kawasaki disease (also known as mucocutaneous lymph node syndrome) is a syndrome of unknown cause that results in a fever and mainly affects children under 5 years of age. [6] It is a form of vasculitis, where medium-sized blood vessels become inflamed throughout the body. [1]
Noonan syndrome is the second most common syndromic cause of congenital heart disease. 50-70% of individuals with NS are born with some form of congenital heart defect, with pulmonary valvular stenosis being the most common (50–60%). [9] Other heart defects include hypertrophic cardiomyopathy (12–35%), ventricular septal defects (5–20% ...
Williams syndrome (WS), also Williams–Beuren syndrome (WBS), is a genetic disorder that affects many parts of the body. [2] Facial features frequently include a broad forehead, underdeveloped chin, short nose, and full cheeks. [2] Mild to moderate intellectual disability is observed in people with WS, with particular challenges with visual ...
Diseases of neonates and children younger than five years. Gonococcal ophthalmia neonatorum. Candida albicans infection. Candida parapsilosis infection. Cytomegalovirus infection. diphtheria. human coronavirus infection. respiratory distress syndrome. measles.
Especially when accompanied by shortness of breath, these symptoms can indicate cardiac amyloidosis, Zoghbi says. “It’s a problem of protein misfolding,” he explains. “The protein, which ...
Cardiology. Hypoplastic left heart syndrome (HLHS) is a rare congenital heart defect in which the left side of the heart is severely underdeveloped and incapable of supporting the systemic circulation. [2] It is estimated to account for 2-3% of all congenital heart disease. [3] Early signs and symptoms include poor feeding, cyanosis, and ...
Congenital heart defect. A congenital heart defect (CHD), also known as a congenital heart anomaly, congenital cardiovascular malformation, and congenital heart disease, is a defect in the structure of the heart or great vessels that is present at birth. [ 7 ] A congenital heart defect is classed as a cardiovascular disease. [ 10 ]
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