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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.
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]
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.
A syndrome is a set of medical signs and symptoms that are correlated with each other. A syndrome can affect one or more of body systems. Different syndromes affect different groups of organs. This is a list of syndromes that may affect the heart. Syndromes affecting primarily the heart are written in bold letters. [1] [2]
Noonan syndrome (NS) is a genetic disorder that may present with mildly unusual facial features, short height, congenital heart disease, bleeding problems, and skeletal malformations. [1] Facial features include widely spaced eyes , light-colored eyes, low-set ears , a short neck, and a small lower jaw . [ 1 ]
The severity of symptoms depends on the type of TGV, and the type and size of other heart defects that may be present (ventricular septal defect, atrial septal defect, or patent ductus arteriosus). Most babies with TGA have blue skin color (cyanosis) in the first hours or days of their lives, since dextro-TGA is the more common type.
Ebstein's anomaly is a congenital heart defect in which the septal and posterior leaflets of the tricuspid valve are displaced downwards towards the apex of the right ventricle of the heart. [1] EA has great anatomical heterogeneity that generates a wide spectrum of clinical features at presentation and is complicated by the fact that the ...
An acyanotic heart defect, is a class of congenital heart defects. In these, blood is shunted (flows) from the left side of the heart to the right side of the heart, most often due to a structural defect (hole) in the interventricular septum. [1] People often retain normal levels of oxyhemoglobin saturation in systemic circulation. [citation ...