Disease Topics:Microcephaly

Microcephaly is a birth defect where a baby’s head is smaller than expected when compared to babies of the same sex and age. Babies with microcephaly often have smaller brains that might not have developed properly.

What is microcephaly?

Microcephaly is a condition where a baby’s head is much smaller than expected. During pregnancy, a baby’s head grows because the baby’s brain grows. Microcephaly can occur because a baby’s brain has not developed properly during pregnancy or has stopped growing after birth, which results in a smaller head size. Microcephaly can be an isolated condition, meaning that it can occur with no other major birth defects, or it can occur in combination with other major birth defects.

What is severe microcephaly?

Severe microcephaly is a more serious, extreme form of this condition where a baby’s head is much smaller than expected. Severe microcephaly can result because a baby’s brain has not developed properly during pregnancy, or the brain started to develop correctly and then was damaged at some point during pregnancy.

Other Problems

Babies with microcephaly can have a range of other problems, depending on how severe their microcephaly is. Microcephaly has been linked with the following problems:

  • Seizures
  • Developmental delay, such as problems with speech or otherdevelopmental milestones (like sitting, standing, and walking)
  • Intellectual disability (decreased ability to learn and function in daily life)
  • Problems with movement and balance
  • Feeding problems, such as difficulty swallowing
  • Hearing loss
  • Vision problems

These problems can range from mild to severe and are often lifelong. Because the baby’s brain is small and underdeveloped, babies with severe microcephaly can have more of these problems, or have more difficulty with them, than babies with milder microcephaly. Severe microcephaly also can be life-threatening. Because it is difficult to predict at birth what problems a baby will have from microcephaly, babies with microcephaly often need close follow-up through regular check-ups with a healthcare provider to monitor their growth and development.

Occurrence

Microcephaly is not a common condition. State birth defects tracking systems have estimated that microcephaly ranges from 2 babies per 10,000 live births to about 12 babies per 10,000 live births in the Unites States.1

Causes and Risk Factors

The causes of microcephaly in most babies are unknown. Some babies have microcephaly because of changes in theirgenes. Other causes of microcephaly, including severe microcephaly, can include the following exposures during pregnancy:

  • Certain infections during pregnancy, such as rubellatoxoplasmosis, or cytomegalovirus
  • Severe malnutrition, meaning a lack of nutrients or not getting enough food
  • Exposure to harmful substances, such as alcohol, certain drugs, or toxic chemicals
  • Interruption of the blood supply to the baby’s brain during development

Diagnosis

Microcephaly can be diagnosed during pregnancy or after the baby is born.

During Pregnancy

During pregnancy, microcephaly can sometimes be diagnosed with an ultrasound test (which creates pictures of the body). To see microcephaly during pregnancy, the ultrasound test should be done late in the 2nd trimester or early in the third trimester. 

After the Baby is Born

To diagnose microcephaly after birth, a healthcare provider will measure the distance around a newborn baby’s head, also called the head circumference, during a physical exam. The provider then compares this measurement to population standards by sex and age. Microcephaly is defined as a head circumference measurement that is smaller than a certain value for babies of the same age and sex. This measurement value for microcephaly is usually less than 2 standard deviations (SDs) below the average. The measurement value also may be designated as less than the 3rd percentile. This means the baby’s head is extremely small compared to babies of the same age and sex.

Head circumference growth charts for newborns, infants, and children up to age 20 years in the United States can be found on CDC’s growth charts website. Head circumference growth charts based on gestational age at birth (in other words, how far along the pregnancy was at the time of delivery) are also available from INTERGROWTH 21st. CDC recommends that health care providers use the WHO growth charts to monitor growth for infants and children ages 0 to 2 years of age in the United States.

Often, healthcare providers should take the head circumference measurement when the newborn baby is at least 24 hours old. This helps make sure that compression due to delivery through the birth canal has resolved. If the healthcare provider suspects the baby has microcephaly, he or she can request one or more tests to help confirm the diagnosis. For example, special tests like a CT scan or an MRI  can provide critical information on the structure of the baby’s brain that can help determine if the newborn baby had an infection during pregnancy. They also can help the healthcare provider look for other problems that might be present

Microcephaly is a medical condition in which the brain does not develop properly resulting in a smaller than normal head.[1] Microcephaly may be present at birth or it may develop in the first few years of life.[1] Often people with the disorder have an intellectual disability, poor motor function, poor speech, abnormal facial features, seizures, and dwarfism.[1]

The disorder may stem from a wide variety of conditions that cause abnormal growth of the brain, or from syndromes associated with chromosomal abnormalities. A homozygous mutationin one of the microcephalin genes causes primary microcephaly.[2] [3] It serves as an importantneurological indication or warning sign, but no uniformity exists in its definition. It is usually defined as a head circumference (HC) more than two standard deviations below the mean for age and sex.[4][5] Some academics advocate defining it as head circumference more than three standard deviations below the mean for the age and sex.[6]

There is no specific treatment that returns the head size to normal.[1] In general, life expectancy for individuals with microcephaly is reduced and the prognosis for normal brain function is poor. Occasionally some will grow normally and develop normal intelligence.[1]

Signs and symptoms[edit]

Affected newborns generally have striking neurological defects and seizures. Severely impaired intellectual development is common, but disturbances in motor functions may not appear until later in life.[citation needed]

Infants with microcephaly are born with either a normal or reduced head size. Subsequently, the head fails to grow, while the face continues to develop at a normal rate, producing a child with a small head and a receding forehead, and a loose, often wrinkled scalp. As the child grows older, the smallness of the skull becomes more obvious, although the entire body also is often underweight and dwarfed. Development of motor functions and speech may be delayed. Hyperactivity and intellectual disability are common occurrences, although the degree of each varies. Convulsions may also occur. Motor ability varies, ranging from clumsiness in some to spastic quadriplegia in others.[citation needed]

Causes

Neural scans of a normal-sized skull (left) and a case of microcephaly (right)

Microcephaly is a type of cephalic disorder. It has been classified in two types based on the onset:[7]

Isolated

  1. Familial (autosomal recessive) microcephaly
  2. Autosomal dominant microcephaly
  3. X-linked microcephaly
  4. Chromosomal (balanced rearrangements and ring chromosome)

Syndromes

  • Chromosomal
  1. Poland syndrome
  2. Down syndrome
  3. Edward syndrome
  4. Patau syndrome
  5. Unbalanced rearrangements
  • Contiguous gene deletion
  1. 4p deletion (Wolf–Hirschhorn syndrome)
  2. 5p deletion (Cri-du-chat)
  3. 7q11.23 deletion (Williams syndrome)
  4. 22q11 deletion (DiGeorge syndrome)
  • Single gene defects
  1. Smith–Lemli–Opitz syndrome
  2. Seckel syndrome
  3. Cornelia de Lange syndrome
  4. Holoprosencephaly
  5. Primary microcephaly 4[8]

Acquired

  • Disruptive injuries
  1. Ischemic stroke
  2. Hemorrhagic stroke
  3. Death of a monozygotic twin
  1. Congenital cytomegalovirus infection
  2. Toxoplasmosis
  3. Congenital rubella syndrome
  4. Zika virus [9][10][11]
  • Drugs
  1. Fetal hydantoin syndrome
  2. Fetal alcohol syndrome

Other

  1. Radiation exposure to mother
  2. Maternal malnutrition
  3. Maternal phenylketonuria
  4. Poorly controlled gestational diabetes
  5. Hyperthermia
  6. Maternal hypothyroidism
  7. Placental insufficiency

Microcephaly (my-kroh-SEF-uh-lee) is a rare neurological condition in which an infant's head is significantly smaller than the heads of other children of the same age and sex. Sometimes detected at birth, microcephaly usually is the result of the brain developing abnormally in the womb or not growing as it should after birth.

Microcephaly can be caused by a variety of genetic and environmental factors. Children with microcephaly often have developmental issues. Generally there's no treatment for microcephaly, but early intervention with supportive therapies, such as speech and occupational therapies, may help enhance your child's development and improve quality of life.

The primary sign of microcephaly is:

  • A head size significantly smaller than that of other children of the same age and sex

Head size is measured as the distance around the top of the child's head (circumference). Using standardized growth charts, the measurement is compared with other children's measurements in percentiles.

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Treatments

Microcephaly is a lifelong condition. There is no known cure or standard treatment for microcephaly. Because microcephaly can range from mild to severe, treatment options can range as well. Babies with mild microcephaly often don’t experience any other problems besides small head size. These babies will need routine check-ups to monitor their growth and development.

For more severe microcephaly, babies will need care and treatment focused on managing their other health problems (mentioned above). Developmental services early in life will often help babies with microcephaly to improve and maximize their physical and intellectual abilities. These services, known as early intervention, can include speech, occupational, and physical therapies. Sometimes medications also are needed to treat seizures or other symptoms.


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