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 cant 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. • Theyre 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 dysplasiacongenita (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, hitchhikers thumb, and ears with a cauliflower appearance.• Respiratory problems are sometimes present in infancy,
Are there Treatments for Dwarfism? • Dwarfism’s treatments dont 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.
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