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Amanda Waltman


                           Dwarfism
Michelle Pinto- Martinez
Christopher De Miranda
David Draper
Period 2
Table 5
What is Dwarfism?
• Is short stature resulting
  from a particular medical
  condition.
• An adult height of 4 feet
  10 inches or under.
• Dwarfism is not a
  disease.
• There is a greater risk of
  some health problems.
What Causes Dwarfism?
• Metabolic or hormonal disorders in infancy or
  childhood.
• Chromosomal abnormalities
• Pituitary Gland Disorders-whichinfluence growth
  and metabolism
• Absorptive problems-when the body can't absorb
  nutrients adequately
• Kidney disease
Who is Affected by Dwarfism?
• Every one can be affected by dwarfism
• One of the most common of all causes
  of dwarfism is a spontaneous genetic
  mutation in the egg or sperm cells.
• This means while you are more likely
  to have dwarfism if you have dwarf
  parents you can still have it with
  average sized parents
Are There Different Types of Dwarfism?
• Yes. Since the only parameter for defining dwarfism
  is being shorter than 4 feet 10in then any condition
  that causes A way to classify dwarfism is related to
  the underlying cause.
• For example Achondroplasia is related to the
  malformation of cartilage.
What is Skeletal Dysplasia?
                 • Most types of dwarfism are
                   known as Skeletal Dysplasias-
                   conditions of abnormal bone
                   growth.
                 • They're divided into two types:
                   ▫ Short-Trunk :
                       -Those have an average-
                     sized trunk but shortened arms
                     and legs
                   ▫ Short-Limb:
                   -Those have a shortened trunk
                     with more average-sized limbs
Short-Limb Dysplasia
• Achondroplasia is average-size trunk and shortened
  upper parts of their arms and leg
• Diastrophic (slide)
• Achondrogenesis is a group of severe, lethal disorders
  characterized by a small body, short limbs, and other
  skeletal abnormalities
• Thanatophoricextremely short limbs and folds of extra
  (redundant) skin on the arms and legs.
Short-Trunk Dysplasia
• Spondyloepiphysealdysplasias (SED) (slide)
• Kniest dysplasia is characterized by dwarfism with other
  skeletal abnormalities and problems with vision and
  hearing.
• Spondyloepimetaphyseal dysplasia, Strudwick type is
  characterized by dwarfism with a very short trunk and
  shortened limbs.
How Is Achondroplasia Inherited?
 • Achondroplasia has a dominant pattern of inheritance.
 • 80% of people with Achondroplasia have average-size parents,
   so the mutation on the FGFR3 gene is new.
 • The remaining 20% of people with Achondroplasia receive an
   altered copy from 1 or 2 affected parents.
 • If it inherited 2 forms they are unlikely to live for more than a
   few days after birth.
What is Spondyloepiphyseal dysplasia
congenita (SED)?
• This genetic condition results in short stature, with adult height
  usually varying from slightly under 3ft to slightly 4 ft.
• Other characteristics can include clubfeet, a cleft palate, and a
  barrel-chested appearance.
• SED occurs approximately once in every 100,000 births.
What is Diastrophic Dysplasia?
• It occurs about one in 100,000 births
• First it was thought to be a different form ofAchondroplasia.
• The condition is often characterized by short-limbed
  dwarfism and, in some cases, cleft palate, clubfeet,
  hitchhiker's thumb, and ears with a cauliflower appearance.
• Respiratory problems are sometimes present in infancy,
Are there Treatments for Dwarfism?
 • Dwarfism’s treatments don't increase stature but may alleviate
   problems caused by complications
 • Surgical procedures that may correct problems with bones in
   people with disproportionate dwarfism
 • Some people with dwarfism elect to undergo limb-lengthening
   surgery.
 • Growth hormone deficiency is treated with injections of a
   synthetic version of the hormone.
JyotiAmge
• She holds the Guinness World Record for worlds smallest
  woman. (18 years old)
• She is 61.95cm tall.
• She weights 12lbs- just 9 lbs more than she did at birth.
• She has Achondroplasia.
Dwarfism Video
• https://www.youtube.com/watch?v=WoYeU6onK3g
Resources
• Little People of America. (2005, June 28). What is Dwarfism? Retrieved
  from http://www.pbs.org/pov/bigenough/special_dwarfism.php

• A.D.A.M Medical (2011). Growth hormone deficiency-children In N.
  Kaneishiro K. & D. Zieve (Eds.), PubMed Health MD: National Center
  for Biotechnology Information,. Retrieved from
  http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002159/

• Mayo Clinic Staff. (2011, August 27). Dwarfism . Retrieved from
  http://www.mayoclinic.com/health/dwarfism/DS01012

• Siojo, R. (2010, December 2). [Web log message]. Retrieved from
  http://genetic-disorders.factoidz.com/facts-about-dwarfism/
• Chang , L. (2010, November 9). Dwarfism: Types, Causes,
  Treatments , and More. Retrieved from
  http://children.webmd.com/dwarfism-causes-treatments?page=2

• Rafael. , & Arnold, P. (2009, April 24 ). Dwarfism FAQ. Retrieved
  from
  http://www.brighthub.com/science/genetics/articles/32788.aspx

• Riciu , A. (2011, November 26). Pituitary Dwarfism Causes,
  Symptoms, Diagnosis and Treatment. Retrieved from
  http://www.doctortipster.com/6928-pituitary-dwarfism-causes-
  symptoms-diagnosis-and-treatment.html

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Dwarfism 1

  • 1. Amanda Waltman Dwarfism Michelle Pinto- Martinez Christopher De Miranda David Draper Period 2 Table 5
  • 2. What is Dwarfism? • Is short stature resulting from a particular medical condition. • An adult height of 4 feet 10 inches or under. • Dwarfism is not a disease. • There is a greater risk of some health problems.
  • 3. What Causes Dwarfism? • Metabolic or hormonal disorders in infancy or childhood. • Chromosomal abnormalities • Pituitary Gland Disorders-whichinfluence growth and metabolism • Absorptive problems-when the body can't absorb nutrients adequately • Kidney disease
  • 4. Who is Affected by Dwarfism? • Every one can be affected by dwarfism • One of the most common of all causes of dwarfism is a spontaneous genetic mutation in the egg or sperm cells. • This means while you are more likely to have dwarfism if you have dwarf parents you can still have it with average sized parents
  • 5. Are There Different Types of Dwarfism? • Yes. Since the only parameter for defining dwarfism is being shorter than 4 feet 10in then any condition that causes A way to classify dwarfism is related to the underlying cause. • For example Achondroplasia is related to the malformation of cartilage.
  • 6. What is Skeletal Dysplasia? • Most types of dwarfism are known as Skeletal Dysplasias- conditions of abnormal bone growth. • They're divided into two types: ▫ Short-Trunk : -Those have an average- sized trunk but shortened arms and legs ▫ Short-Limb: -Those have a shortened trunk with more average-sized limbs
  • 7. Short-Limb Dysplasia • Achondroplasia is average-size trunk and shortened upper parts of their arms and leg • Diastrophic (slide) • Achondrogenesis is a group of severe, lethal disorders characterized by a small body, short limbs, and other skeletal abnormalities • Thanatophoricextremely short limbs and folds of extra (redundant) skin on the arms and legs.
  • 8. Short-Trunk Dysplasia • Spondyloepiphysealdysplasias (SED) (slide) • Kniest dysplasia is characterized by dwarfism with other skeletal abnormalities and problems with vision and hearing. • Spondyloepimetaphyseal dysplasia, Strudwick type is characterized by dwarfism with a very short trunk and shortened limbs.
  • 9. How Is Achondroplasia Inherited? • Achondroplasia has a dominant pattern of inheritance. • 80% of people with Achondroplasia have average-size parents, so the mutation on the FGFR3 gene is new. • The remaining 20% of people with Achondroplasia receive an altered copy from 1 or 2 affected parents. • If it inherited 2 forms they are unlikely to live for more than a few days after birth.
  • 10. What is Spondyloepiphyseal dysplasia congenita (SED)? • This genetic condition results in short stature, with adult height usually varying from slightly under 3ft to slightly 4 ft. • Other characteristics can include clubfeet, a cleft palate, and a barrel-chested appearance. • SED occurs approximately once in every 100,000 births.
  • 11. What is Diastrophic Dysplasia? • It occurs about one in 100,000 births • First it was thought to be a different form ofAchondroplasia. • The condition is often characterized by short-limbed dwarfism and, in some cases, cleft palate, clubfeet, hitchhiker's thumb, and ears with a cauliflower appearance. • Respiratory problems are sometimes present in infancy,
  • 12. Are there Treatments for Dwarfism? • Dwarfism’s treatments don't increase stature but may alleviate problems caused by complications • Surgical procedures that may correct problems with bones in people with disproportionate dwarfism • Some people with dwarfism elect to undergo limb-lengthening surgery. • Growth hormone deficiency is treated with injections of a synthetic version of the hormone.
  • 13. JyotiAmge • She holds the Guinness World Record for worlds smallest woman. (18 years old) • She is 61.95cm tall. • She weights 12lbs- just 9 lbs more than she did at birth. • She has Achondroplasia.
  • 15. Resources • Little People of America. (2005, June 28). What is Dwarfism? Retrieved from http://www.pbs.org/pov/bigenough/special_dwarfism.php • A.D.A.M Medical (2011). Growth hormone deficiency-children In N. Kaneishiro K. & D. Zieve (Eds.), PubMed Health MD: National Center for Biotechnology Information,. Retrieved from http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002159/ • Mayo Clinic Staff. (2011, August 27). Dwarfism . Retrieved from http://www.mayoclinic.com/health/dwarfism/DS01012 • Siojo, R. (2010, December 2). [Web log message]. Retrieved from http://genetic-disorders.factoidz.com/facts-about-dwarfism/
  • 16. • Chang , L. (2010, November 9). Dwarfism: Types, Causes, Treatments , and More. Retrieved from http://children.webmd.com/dwarfism-causes-treatments?page=2 • Rafael. , & Arnold, P. (2009, April 24 ). Dwarfism FAQ. Retrieved from http://www.brighthub.com/science/genetics/articles/32788.aspx • Riciu , A. (2011, November 26). Pituitary Dwarfism Causes, Symptoms, Diagnosis and Treatment. Retrieved from http://www.doctortipster.com/6928-pituitary-dwarfism-causes- symptoms-diagnosis-and-treatment.html