Down Syndrome

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Down Syndrome

• Online Health
• Period 1- Andy Deihm
• Virtual- Maggie Deihm

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Definition

• Down syndrome, also known as Trisomy 21, is a
  chromosome abnormality usually due to an extra
  copy of the 21st chromosome and usually resulting
  in mental retardation and other abnormalities.

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Getting Familiar

• Down Syndrome is a genetic disorder that occurs
  at conception.
• It usually causes delays and limitations in
  physical and intellectual development.

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Physical Characteristics

• Their heads are smaller than normal (this is
  called microcephaly) and abnormally shaped.
• Prominent facial features include a flattened
  nose, protruding tongue, and upward slanting
  eyes.
• The inner corner of the eyes may have a rounded
  fold of skin (epicanthal fold) rather than coming
  to a point.
• The hands are short and broad with short fingers
  and often have a single crease in the palm.
• Retardation of normal growth and development is
  typical and most affected children never reach
  average adult height.

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Facts

• Down Syndrome was first discovered in 1866 by a
  man named John Langdon Haydon.
• Just as is in the general population, there is a
  wide variation in mental abilities, behavior and
  physical development in individuals with Down
  Syndrome.
• The incidence of Down Syndrome in the general
  population is one in every 650-750 live births.
• Women under 35 years of age give birth to more
  than 80 of children with Down Syndrome.
• Approximately 30-40 of individuals with Down
  Syndrome are born with heart defects and some
  have other congenital anomolies. Most of these
  defects are now correctable by surgery.

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Symptoms

• Decreased muscle tone at birth
• Sutures - separated
• Asymmetrical or odd-shaped skull
• -Round head with flat area at the back of the
  head (occiput)
• -Small skull (microcephaly)
• Upward slanting eyes, unusual for ethnic group
• Small mouth with protruding tongue
• Broad short hands
• Single crease on the palm
• Retarded growth or development
• Delayed mental and social skills
• Iris lesion (an abnormality of the colored part
  of the eye, called Brush field spots)

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Signs at birth

• A heart murmur may be revealed by listening to
  the chest with a stethoscope (auscultation).
  Characteristic abnormalities are revealed by a
  physical examination. These include a flattened
  facial profile, small ears, separation of the
  abdominal muscles, joint hyperflexibility,
  awkward gait, extra skin on back of neck at
  birth, and an abnormal bone in the middle of the
  5th finger.
• Early and massive vomiting may indicate
  obstruction of the esophagus (esophageal atresia)
  or duodenum and less often lower segments of the
  gastrointestinal tract.  This is sometimes
  discovered by inability at birth to pass a tube
  from the nose into the stomach or duodenum as
  well as by special X-rays. 

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Pictures
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Supportive Organizations

• Annie Forts UP Syndrome Fund - non-profit fund
  assisting in education and assistance to
  individuals with Down Syndrome and supporting the
  study of treatment and rehabilitation.
• Down's Syndrome Research Foundation Ltd -
  initiates medical research projects to improve
  the outcome for children with trisomy 21.
• UPSIDE! Down Syndrome Society - group of
  individuals, families, and friends involved with
  Down Syndrome.
• Karen Gaffney Foundation (Down Syndrome
  Education) - championing the journey to full
  inclusion for people with Down Syndrom in
  schools, the workplace and communities.
• National Association for Down Syndrome (NADS) -
  news, resources, and scientific information
  related to down syndrome from NADS, a
  not-for-profit organization serving people in the
  Chicago metropolitan area.
• Tidewater Down Syndrome Association - provides
  information and links.
• Canadian Down Syndrome Society - information on
  Down syndrome and CDSS, a list of parent support
  groups across Canada, resources and links to
  other sites.
• Down's Syndrome Association_at_
• Trisomy 21 Foundation of Northern New York -
  mission is to improve the quality of life of
  adults and children with Down's Syndrome through
  education, funding, and research.
• Indiana Down Syndrome Foundation - an
  organization dedicated to raising awareness for
  people with this disorder and to provide
  information and support.