Getting to know Jacob's syndrome, chromosomal abnormalities in men

Jacob's syndrome is a condition of genetic mutations that occur in men. If normally every cell in the body has 46 chromosomes, sufferers of Jacob's syndrome actually have 47 chromosomes.

Although rare, Jacob's syndrome is worth knowing. Conditions that only occur in this man, can make sufferers have difficulty in growth and development, so it requires special attention from parents.

Getting to know Jacob's syndrome, chromosomal abnormalities in men

Causes of Jacob's Syndrome

In the process of reproduction, fetal candidates formed through fertilization will get a genetic component from the father's sperm cell and the mother's egg. This component will also determine the sex of the baby.

There are two types of sex chromosomes that can form a person's sex, namely the X and Y chromosomes. Under normal conditions, women have two X chromosomes (XX), whereas men have one X chromosome and one Y chromosome (XY).

Well, men with Jacob's syndrome actually have one additional Y chromosome, so that the chromosomes formed become XYY.

Although it is a genetic disorder, Jacob's syndrome is usually not inherited from parents. So far it is not known what the exact cause of this disease.

However, this excess Y chromosome is known to occur when sperm cells do not develop properly or there is an abnormality in the formation of Y chromosome components in the early stages of fetal (embryonic) development.

Some Signs and Symptoms of Jacob's Syndrome

Jacob's syndrome can be recognized from a collection of signs and symptoms that arise, ranging from infants to adults. The following are the signs and symptoms of Jacob's syndrome according to the age of the sufferer:

Babies

Some signs or symptoms of Jacob's syndrome in infants, including:

  • Difficult or late talking.
  • Impaired development of motor skills, such as late crawling, sitting, or walking.
  • Weak muscles
  • The baby seems less active

Small children or teens

Here are some of the symptoms or signs of Jacob's syndrome in young children or teenagers, namely:

  • Impaired behavior and emotions are unstable.
  • Interference or delay in speech.
  • Barriers to growth and learning difficulties, such as difficulty reading or writing at school.
  • Difficult to focus.
  • Hands are trembling or unconscious body movements.
  • Growing pimples.
  • Large teeth (macrodonsia).

In addition to some of the signs and symptoms above, children who have Jacob's syndrome are also said to have a higher risk for experiencing autism disorders. However, not all children born with Jacob's syndrome will experience the disorder.

After growing up, symptoms or signs of Jacob's syndrome that are suspect are problems of fertility (infertility).
In addition to the signs or symptoms above, there are some other physical signs and characteristics found in people with Jacob's syndrome, namely:

  • Position the ear under normal position
  • Flat cheekbones
  • Your fingers look curved
  • Very high posture
  • Head size tends to be wide
  • The distance between the eyes is wide
  • Spinal abnormalities, such as scoliosis.

Because the symptoms are not unique and can be similar to several other diseases, a further medical examination is needed from the doctor to determine whether a person has Jacob's syndrome.

The doctor will do a physical examination, evaluation of growth and development, and genetic examination to determine whether a person has Jacob's syndrome. To detect Jacob's syndrome as early as possible, obstetricians need to do a genetic examination or chromosome examination since they are still in the womb.

Can Jacob's Syndrome be cured?

Until now, there was no effective treatment method to deal with Jacob's syndrome. Treatment steps taken are only intended to relieve the symptoms that arise and help and train sufferers to live normally.

Some of the steps that can be taken, including speech therapy, physiotherapy, occupational therapy, and learning therapy. For adult Jacob syndrome patients, treatment from an Andrologist may be needed to treat fertility disorders.

Jacob's syndrome is often not realized by sufferers because it is difficult to detect. Therefore, patients suspected of having Jacob's syndrome are encouraged to undergo routine health checks as a form of early detection of Jacob's syndrome.

This is important so that the handling steps can be done quickly and precisely, so that the symptoms that appear can be controlled and do not interfere with the quality of life too badly.

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