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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 ...
The term childhood disease refers to disease that is contracted or becomes symptomatic before the age of 18 or 21 years old. Many of these diseases can also be contracted by adults. Some childhood diseases include:
[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]
Inborn errors of metabolism are often referred to as congenital metabolic diseases or inherited metabolic disorders. [2] Another term used to describe these disorders is "enzymopathies". This term was created following the study of biodynamic enzymology , a science based on the study of the enzymes and their products.
Congenital syphilis is syphilis that occurs when a mother with untreated syphilis passes the infection to her baby during pregnancy or at birth. [4] It may present in the fetus, infant, or later. [1] [5] Clinical features vary and differ between early onset, that is presentation before 2-years of age, and late onset, presentation after age 2 ...
A case-control study in rural Australia that was conducted following frequent reports of prenatal mortality and congenital malformations found that those who drank the nitrate-containing groundwater, as opposed to rain water, ran the risk of giving birth to children with central nervous system disorders, muscoskeletal defects, and cardiac defects.
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.