DiGeorge Syndrome

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DiGeorge Syndrome
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DiGeorge Syndrome

• DiGeorge syndrome is a disease that is caused by
  a defect happen in chromosome 22. Further, it
  results in the poor development of various body
  systems.Medical problems associated with
  DiGeorge syndrome include heart defects, poor
  immune system function, a cleft palate,
  complications related to low levels of calcium in
  the blood, and delayed development with
  behavioral and emotional problems.The number
  and severity of symptoms associated with DiGeorge
  syndrome differentiate greatly. However, almost
  everyone suffering with DiGeorge syndrome needs
  treatment from specialists in a variety of
  fields.Before the discovery of the chromosome
  22 defect, the disorder was known by several
  names DiGeorge syndrome, velocardiofacial
  syndrome, Shprintzen syndrome, CATCH22 and
  others.

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Causes of DiGeorge Syndrome

• DiGeorge syndrome is caused by the removal of a
  portion of chromosome 22. Each person is
  consisting of two copies of chromosome 22, one
  inherited from each parent.If a person is
  having DiGeorge syndrome, one copy of chromosome
  22 is missing a segment that includes an
  estimated 30 to 40 genes. Many of these genes
  haven't been clearly identified and aren't
  well-understood. The region of chromosome 22
  that's deleted in DiGeorge syndrome is known as
  22q11.2.The extraction of genes from chromosome
  22 generally happens as a random event in the
  father's sperm or in the mother's egg or it may
  occur early at the time of fetal development.

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Symptoms of DiGeorge Syndrome

• Some of the signs and symptoms of DiGeorge
  syndrome can relate depending on what body
  systems are affected and how severe the defects
  are. The symptoms can be present from birth, but
  others may not appear until later in infancy or
  early childhood.Following are the signs and
  symptoms
• Breathing problems
• Frequent infections
• Some of the specific facial features, like an
  underdeveloped chin, low-set ears, wide-set eyes
  or a narrow groove in the upper lip
• A gap in the roof of the mouth (cleft palate) or
  other problems with the palate

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Symptoms of DiGeorge Syndrome
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• Delayed growth
• Difficulty feeding and gastrointestinal problems
• Failure to gain weight
• Poor muscle tone
• Development i.e. delayed, like delays in rolling
  over, sitting up or other infant milestones
• Delayed speech development
• Learning difficulties and behavior problems

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Treatment for DiGeorge Syndrome

• Some of the available treatments and therapy for
  DiGeorge syndrome include
• Hypoparathyroidism  Usually, hypoparathyroidism
  can be managed with calcium supplements and
  vitamin D supplements.
• Limited thymus gland function - If your child is
  having some thymic function, infections can be
  frequent, but not necessarily severe.
• Major thymus disorder - If the dysfunction of the
  thymus is much or there's no thymus, your child
  is at risk of a number of severe infections.
  Generally, treatment requires a transplant of
  thymus tissue, specialized cells from bone marrow
  or specialized disease-fighting blood cells.

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Treatment for DiGeorge Syndrome
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• Cleft palate - A cleft palate or other
  abnormalities of the palate and lip can usually
  be surgically repaired.
• Heart defects - Most of the heart defects that
  are associated with DiGeorge syndrome require
  surgery to repair the heart and improve the
  supply of oxygen-rich blood.
• Mental health care - Treatment may be recommended
  if your child is later diagnosed with
  attention-deficit/hyperactivity disorder (ADHD),
  depression, schizophrenia, or other mental health
  or behavioral disorders.

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