A congenital malformation is a physical anomaly that is deleterious, i.e. a structural defect perceived as a problem. A typical combination of malformations affecting more than one body part is referred to as a malformation syndrome .
A congenital heart defect (CHD), also known as a congenital heart anomaly and congenital heart disease, is a defect in the structure of the heart or great vessels that is present at birth. Signs and symptoms depend on the specific type of defect. Symptoms can vary from none to life-threatening.
List of ICD-9 codes 740–759: congenital anomalies; Rare disease This page was last edited on 27 July 2020, at 07:52 (UTC). Text is available under the Creative ...
Congenital disorder or congenital disease A congenital disorder is one that is present at birth. It is often a genetic disease or disorder and can be inherited. It can also be the result of a vertically transmitted infection from the mother, such as HIV/AIDS. Genetic disease A genetic disorder or disease is caused by one or more genetic mutations.
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Congenital heart disease includes a large number of conditions. The formation of the heart before birth is very complex and is sometimes abnormal. For example, if a part of the main artery that comes from the heart is narrowed, that is called coarctation of the aorta .
Diagnosis. Dozens of congenital metabolic diseases are now detectable by newborn screening tests, especially expanded testing using mass spectrometry. This is an increasingly common way for the diagnosis to be made and sometimes results in earlier treatment and a better outcome.
Myotonia congenita is a congenital neuromuscular channelopathy that affects skeletal muscles (muscles used for movement). It is a genetic disorder.The hallmark of the disease is the failure of initiated contraction to terminate, often referred to as delayed relaxation of the muscles and rigidity.
A congenital heart defect, also known as a "congenital heart anomaly" or "congenital heart disease", is a problem in the structure of the heart that is present at birth. Signs and symptoms depend on the specific type of problem. Symptoms can vary from none to life-threatening.
- Risk Factors
Congenital adrenal hyperplasia (CAH) refers to a group of genetic disorders that affect the adrenal glands, a pair of walnut-sized organs above the kidneys. The adrenal glands produce important hormones, including: 1. Cortisol, which regulates the body's response to illness or stress 2. Mineralocorticoids, such as aldosterone, which regulate sodium and potassium levels 3. Androgens, such as testosterone, which are male sex hormones In people who have CAH, a genetic problem results in a lack of one of the enzymes needed to make these hormones. Although there is no cure, with proper treatment, most people who have congenital adrenal hyperplasia can lead normal lives. There are two major types of congenital adrenal hyperplasia: 1. Classic CAH. This form is rarer and is usually detected in infancy. Approximately two-thirds of people who have classic CAHhave what's known as the salt-losing form, while one-third have what's referred to as the simple-virilizing form. 2. Nonclassic CAH.This...
Signs and symptoms of CAHvary, depending on which gene is defective and the level of enzyme deficiency.
The most common cause of CAH is the lack of the enzyme known as 21-hydroxylase. CAH may sometimes be called 21-hydroxylase deficiency. There are other much rarer enzyme deficiencies that also cause CAH. Children who have the condition have two parents who either have CAHthemselves or who are both carriers of the genetic mutation that causes the condition. This is known as the autosomal recessive inheritance pattern.
Factors that increase the risk of having CAHinclude: 1. Parents who both have CAHor are both carriers of the genetic defect for the disorder 2. Certain ethnic heritages, such as Ashkenazi Jew, but also Hispanic, Italian, Yugoslav and Yupik Inuit
People who have classic CAH are at risk of adrenal crisis because they have very low levels of cortisol in the blood. This can cause diarrhea, vomiting, dehydration, low blood sugar levels and shock. Adrenal crisis is a life-threatening medical emergency that requires immediate treatment. Aldosterone also may be low, which leads to dehydration and low sodium and high potassium levels. The nonclassic form of CAHdoesn't cause adrenal crisis. Males and females who have either classic or nonclassic CAHmay also experience fertility problems.
There is no known way to prevent congenital adrenal hyperplasia. If you're thinking of starting a family and you're at risk of having a child with CAH, your doctor may recommend that you see a genetic counselor.
Peyronie's disease is a connective tissue disorder involving the growth of fibrous plaques in the soft tissue of the penis.Specifically, scar tissue forms in the tunica albuginea, the thick sheath of tissue surrounding the corpora cavernosa, causing pain, abnormal curvature, erectile dysfunction, indentation, loss of girth and shortening.