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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]
Generally, diseases outlined within the ICD-10 codes Q20-Q24 within Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities should be included in this category. Congenital heart disease is any disease due to an inborn defect in the heart that is present at birth.
Neonatal diabetes is classified into three subtypes: permanent, transient, and syndromic; each with distinct genetic causes and symptoms. [5] Syndromic neonatal diabetes is the term for diabetes as just one component of any of several complex syndromes that affect neonates, including IPEX syndrome, Wolcott-Rallison syndrome, and Wolfram ...
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.
In rare cases, a mutation in the CDK13 gene is responsible for the disorder; this genetic mutation has only been described in three affected children belonging to a consanguineous Pakistani family who, in addition to the typical symptoms of the disorder, also had gastrointestinal tract anomalies, congenital heart defects, and clinodactyly. [20]
Symptoms may appear at birth or after birth. 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 ...
Shone’s syndrome is a rare disorder that is often detected in very young children. The children tend to show symptoms like fatigue, nocturnal cough, and reduced cardiac output by the age of two years. They also develop wheezing due to the exudation of fluid into the lungs. [1]