Congenital disorders

Congenital disorders, also known as congenital diseases, birth defects, or anomalies, are structural or functional abnormalities that are present at birth. These disorders can be a result of genetic factors, environmental factors, or a combination of both and can lead to physical or mental disabilities, or even death in severe cases.

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Laurence Moon Biedl Syndrome 4

Classification

Down Syndrome Karyotype

Boy with Down Syndrome

Congenital disorders can be classified into:

• Structural Abnormalities: Physical deformities in a part or parts of the body.
• Functional or Developmental Abnormalities: Problems in the working or development of a body system or metabolism.
• Congenital Infections: Diseases passed from mother to fetus during pregnancy.
• Birth Injuries: Physical injuries sustained during childbirth.

Causes

The causes of congenital disorders can be broadly categorized as:

• Genetic Factors: Inherited conditions or mutations in genes. Examples include Down syndrome and cystic fibrosis.
• Environmental Factors: External factors that impact fetal development. Examples are maternal infections, use of certain medications, and exposure to radiation.
• Multifactorial Causes: A combination of genetic susceptibilities and environmental triggers. Many heart defects are considered multifactorial.

Common Congenital Disorders

• Heart defects: Problems with the structure of the heart present at birth.
• Neural tube defects: Abnormalities in the brain or spinal cord development, like spina bifida.
• Cleft lip and palate: Splitting of the upper lip or roof of the mouth.
• Down syndrome: An extra chromosome causing developmental and physical changes.
• Muscular dystrophy: A group of inherited muscle diseases.
• Phenylketonuria (PKU): A metabolic disorder affecting the breakdown of phenylalanine.

Diagnosis

Congenital disorders can often be diagnosed:

• Prenatally: Through ultrasounds, blood tests, or procedures like amniocentesis.
• At Birth: Through physical examination and newborn screening tests.
• After Birth: Symptoms may manifest later, necessitating diagnostic tests.

Treatment

The treatment for congenital disorders varies based on the type and severity:

• Surgical Intervention: For structural abnormalities like heart defects or cleft palate.
• Physical Therapy: Beneficial for disorders affecting mobility.
• Medication: For conditions like PKU where dietary adjustments and drugs can manage symptoms.
• Supportive Care: Respiratory therapy, speech therapy, or specialized education programs for developmental challenges.

Prevention

While not all congenital disorders can be prevented, some measures can reduce risk:

• Prenatal care: Regular medical check-ups during pregnancy.
• Genetic Counseling: For couples with a family history of congenital disorders.
• Vaccination and Disease Prevention: Protects against infections that can cause congenital anomalies.
• Lifestyle Choices: Avoiding smoking, alcohol, and certain medications during pregnancy.

See Also

• Genetics
• Prenatal care
• Pediatrics
• List of congenital disorders

Congenital disorders Resources
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