A congenital syndrome is a disorder that originates in a developing fetus. In some cases, the disorder might result in a malformation, which is often referred to as a birth defect. Among the different types of congenital syndrome are inherited and non-inherited, those involving a chromosomal abnormality and those relating to structure or function of parts of the body.
An inherited congenital syndrome involves the transmission of defective or abnormal genes from parent to child. This can be inherited from one parent, which is referred to as an autosomal dominant disorder, or from both parents, which is called an autosomal recessive abnormality. In the instance of autosomal recessive transference, each parent must transfer a copy of the defective gene to the embryo, even if neither parent has the actual disorder.
Other types of congenital syndromes are not inherited at all. For example, in some instances, a genetic mutation occurs on its own as the embryo is in the earliest stages of development. Still other types of congenital syndromes involve chromosomal abnormalities instead of genetic problems. For example, part of a chromosome might be missing, or an extra chromosome might be present.
Some forms of congenital syndrome are functional. This means that some organs or body systems might appear to look normal but do not work in the way they should in a healthy individual. Other types of congenital syndrome involve structural issues, in which case a body part might look abnormal. These abnormalities are not necessarily a danger to the life or overall health of the patient.
A well-known congenital syndrome is congenital heart syndrome (CHS). This is a functional disorder affecting the way the heart muscle works. This syndrome often is a more serious issue if it exists as part of a genetic condition. Surgery is often deemed the best method of correcting congenital anomalies such as these.
Congenital nephrotic syndrome is yet another congenital syndrome that can be present in a newborn. This condition causes excess protein to be present in the urine as well as causing systemic swelling of the body. This syndrome is an inherited condition that is present in only a small percentage of families. If early medications are not successful, dialysis or kidney transplantation might become necessary.
Bloom syndrome, or congenital telangiectatic erythema, is a rare autosomal recessive disorder causing lowered immunity and poor growth. Oftentimes, various neoplasms also occur. This condition is caused by a gene mutation that often leads to leukemia. There is no treatment for the condition itself, but avoiding sun exposure might prevent some of the skin issues present with this type of congenital anomaly.