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CDK13-related disorder, also known as congenital heart defects, dysmorphic facial features and intellectual developmental disorder (CHDFIDD), is a very rare autosomal dominant genetic condition characterised by congenital heart defects, intellectual disability and characteristic facial features.
Most congenital heart defects are not associated with other diseases. [3] A complication of CHD is heart failure. [2] Congenital heart defects are the most common birth defect. [3] [11] In 2015, they were present in 48.9 million people globally. [8] They affect between 4 and 75 per 1,000 live births, depending upon how they are diagnosed.
This type of congenital heart defect is associated with patients with Down syndrome (trisomy 21) or heterotaxy syndromes. [ 8 ] 45% of children with Down syndrome have congenital heart disease. Of these, 35–40% have AV septal defects. [ 9 ]
Congenital heart problems e.g. pulmonary artery stenosis (common), Tetralogy of Fallot, overriding aorta, ventricular septal defect; and right ventricular hypertrophy. Liver (jaundice, pruritus, hepatosplenomegaly, acholia, xanthoma) Andersen–Tawil syndrome: This condition affects the QT interval (in blue) Antley–Bixler syndrome: Barth syndrome
Dementia and plaque in the arteries. Coronary heart disease, which is the buildup of plaque in the body’s arteries, is the lead killer in the world, according to the World Health Organization ...
Congenital heart defects are divided into two main groups: cyanotic heart defects and non-cyanotic heart defects, depending on whether the child has the potential to turn bluish in color. [100] The problems may involve the interior walls of the heart, the heart valves , or the large blood vessels that lead to and from the heart.
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 ...
Childhood dementia is an umbrella group of rare, mostly untreatable neurodegenerative disorders that show symptoms before the age of 18. These conditions cause progressive deterioration of the brain and the loss of previously acquired skills such as talking, walking, and playing.