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-which influence 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 a shortened
trunk with more average-sized
limbs
▫ Short-Limb:
-Those have an average-
sized trunk but shortened arms
and legs
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
• Thanatophoric extremely short limbs and folds of extra
(redundant) skin on the arms and legs.
8. Short-Trunk Dysplasia
• Spondyloepiphyseal dysplasias (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.
11. 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.
12. 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,
13. 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.
14. Jyoti Amge
• 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.
16. 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/
17. • 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
