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Congenital adrenal hyperplasia (CAH) Congenital central hypoventilation syndrome; Congenital diaphragmatic hernia (CDH) Congenital Disorder of Glycosylation (CDG) Congenital hyperinsulinism; Congenital insensitivity to pain with anhidrosis (CIPA) Congenital pulmonary airway malformation (CPAM) Conjoined twins; Costello syndrome; Craniopagus ...
Carnitine uptake defect (CUD) < 1 in 100,000; Miscellaneous multisystem diseases. Cystic fibrosis (CF) > 1 in 5,000; Congenital hypothyroidism (CH) > 1 in 5,000; Biotinidase deficiency (BIOT) > 1 in 75,000; Congenital adrenal hyperplasia (CAH) > 1 in 25,000; Classical galactosemia (GALT) > 1 in 50,000; Newborn screening by other methods than ...
Fetal abnormalities are conditions that affect a fetus or embryo, are able to be diagnosed prenatally, and may be fatal or cause disease after birth. They may include aneuploidies, structural abnormalities, or neoplasms. Acardiac twin; Achondrogenesis; Achondroplasia
After examining 833 children with the syndrome, in 1963 presented a paper: "Associated non-cardiac malformations in children with congenital heart disease". [46] This described nine children who in addition to congenital heart disease had characteristic facial features, chest deformities and short stature. Dr. John Opitz, a former student of ...
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.
Generally, diseases outlined within the ICD-10 codes Q00-Q99 within Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities should be included in this category. The main article for this category is Congenital disorder .
[5]: 62 Babies with Down syndrome and other chromosomal defects that cause congenital heart defects may also be at risk of teratology of Fallot. [11] Teratology of fallot is typically treated by open heart surgery in the first year of life. [8] The timing of surgery depends on the baby's symptoms and size. [8]
Tricuspid atresia is a form of congenital heart disease whereby there is a complete absence of the tricuspid valve. [2] Therefore, there is an absence of right atrioventricular connection. [2] This leads to a hypoplastic (undersized) or absent right ventricle. This defect occurs during prenatal development, when the heart does not finish ...