Congenital abnormality

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Congenital Abnormality

Congenital abnormality (pronunciation: /kənˈdʒɛnɪtəl æbˈnɔːməlɪti/), also known as birth defect, is a condition that is present at birth, regardless of its cause. The term is derived from the Latin words "congenitus" (meaning "born with") and "abnormalitas" (meaning "deviation from the norm").

Definition

A Congenital abnormality is a physical or biochemical issue in a baby that is present from birth. It can be the result of genetic factors, environmental influences, or a combination of both. These abnormalities can lead to physical disabilities, intellectual disability, or even death.

Types

There are two main types of congenital abnormalities: structural and functional/developmental.

  • Structural abnormalities are when a specific body part is missing or malformed. Examples include Heart defects, Cleft lip or palate, and Spina bifida.
  • Functional/developmental abnormalities are problems with how a body part or body system works. These include metabolic disorders, sensory problems, and nervous system problems such as Down syndrome or Autism.

Causes

The exact cause of many congenital abnormalities is often not known. However, some can be linked to genetic factors, environmental factors (such as exposure to certain toxins during pregnancy), or a combination of both. Some conditions, such as Fetal alcohol syndrome, are caused by maternal substance abuse during pregnancy.

Diagnosis and Treatment

Diagnosis of a congenital abnormality can often be made during pregnancy through prenatal screening tests. Treatment varies depending on the specific abnormality and its severity. It can range from surgical intervention to manage physical abnormalities, to medications and therapies to manage functional or developmental issues.

See Also

References

External links

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