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1 in 7,500 to 1 in 20,000 [4] 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 ...
Noncompaction cardiomyopathy (NCC) is a rare congenital disease of heart muscle that affects both children and adults. [1] It results from abnormal prenatal development of heart muscle. [2][3] During development, the majority of the heart muscle is a sponge-like meshwork of interwoven myocardial fibers. As normal development progresses, these ...
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 ...
DiGeorge syndrome, also known as 22q11.2 deletion syndrome, is a syndrome caused by a microdeletion on the long arm of chromosome 22. [7] While the symptoms can vary, they often include congenital heart problems, specific facial features, frequent infections, developmental disability, intellectual disability and cleft palate. [7]
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 ]
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 ...
The most common heart malformations from genetic or epigenetic problems are: stenosis of the aorta and pulmonary trunk, which is a narrowing of the vessels, atrial and/or ventricular septal defect, tricuspid atresia, and hypoplastic left and right heart syndrome. When an individual has hypoplastic right or left heart syndrome, it means that ...
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