Dwarfism

Dwarfism

1. 2015/2016 Mohamed M.Elsaied 2016/2017 [ Dwarfism ]

2. What is Dwarfism? Mohamed M.Elsaied 2016/2017 Dwarfism is Hypo-secretion of Growth Hormone Hyposecretion (underproduction) of the Growth Hormone during growing years causes slow bone growth and the epiphyseal plates close before normal height is reached 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. Causes of Dwarfism Mohamed M.Elsaied 2016/2017 Reduction in GH secretion in infancy or early childhood causes dwarfism. It occurs because of the following reasons: Tumor of chromophobes , which compresses and destroys the normal cells secreting GH Deficiency of GH-releasing hormone secreted by hypothalamus Deficiency of somatomedin C Atrophy or degeneration of acidophilic cells in the anterior pituitary

4. Mohamed M.Elsaied 2016/2017 Pan- hypopituitarism Reduction in the secretion of all the hormones of anterior pituitary gland. This type of dwarfism is associated with other symptoms due to the deficiency of other anterior pituitary hormones Chromosomal abnormalities Kidney disease

5. Mohamed M.Elsaied 2016/2017

6. Mohamed M.Elsaied 2016/2017

7. Mohamed M.Elsaied 2016/2017

8. Who is Affected by Dwarfism? Mohamed M.Elsaied 2016/2017 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

9. Signs and symptoms: Mohamed M.Elsaied 2016/2017 Primary symptom of hypopituitarism in children is the stunted skeletal growth. Max height of anterior pituitary dwarf at the adult age is only about 3 feet Proportions of different parts of the body are almost normal. Only the head becomes slightly larger in relation to the body

10. Mohamed M.Elsaied 2016/2017 Pituitary dwarfs do not show any deformity and their mental activity is normal with no mental retardation Reproductive function is not affected, if there is only GH deficiency. However, during panhypopituitarism , the dwarfs do not obtain puberty due to the deficiency of gonadotropic hormone.

11. Classification Mohamed M.Elsaied 2016/2017  Dwarfism is usually caused by a genetic variant;  achondroplasia  is caused by a mutation on chromosome 4. If dwarfism is caused by a medical disorder, the person is referred to by the underlying diagnosed disorder. Disorders causing dwarfism are often classified by proportionality. Disproportionate dwarfism describes disorders that cause unusual proportions of the body parts, while proportionate dwarfism results in a generally uniform stunting of the body. Disorders that cause dwarfism may be classified according to one of hundreds of names, which are usually permutations of the following roots

12. Mohamed M.Elsaied 2016/2017 location rhizomelic  = root, e.g., bones of the upper arm or thigh mesomelic = middle, e.g., bones of the forearm or lower leg acromelic = end, e.g., bones of hands and feet. micromelic = entire limbs are shortened source chondro = of cartilage osteo = of bone spondylo = of the vertebrae plasia = form trophy = growth

13. Dwarfism Types Mohamed M.Elsaied 2016/2017 Achondroplasia Laron dwarfism Psychogenic Dwarfism Spondyloepiphyseal dysplasia congenita (SED) Diastrophic Dysplasia Campomelic Dysplasia dystrophia adiposogenitalis Hypophosphatemia Hallerman-Streiff Syndrome Cartilage Hair Hypoplasia (CHH) Robinow dwarfism/syndrome Turner Syndrome Pituitary Dwarfism

14. Achondroplasia Mohamed M.Elsaied 2016/2017 Achondroplasia is average-size trunk and shortened upper parts of their arms and leg 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.

15. Laron dwarfism Mohamed M.Elsaied 2016/2017 Genetic disorder, also called GH insensitivity. It occurs due to the presence of abnormal growth hormone secretagogue (GHS) receptors in liver. GHS receptors become abnormal because of the mutation of genes for the receptors. GH secretion is normal or high. But the hormone cannot stimulate growth because of the abnormal GHS receptors

16. Psychogenic Dwarfism Mohamed M.Elsaied 2016/2017 Dwarfism occurs if the child is exposed to extreme emotional deprivation or stress. The short stature is because of deficiency of GH. This type of dwarfism is called psychogenic dwarfism, psychosocial dwarfism or stress dwarfism

17. Dysplasia Mohamed M.Elsaied 2016/2017 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

18. Spondyloepiphyseal dysplasia Mohamed M.Elsaied 2016/2017 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.

19. Diastrophic Dysplasia Mohamed M.Elsaied 2016/2017 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,

20. Mohamed M.Elsaied 2016/2017

21. Diagnosis Mohamed M.Elsaied 2016/2017 Most cases of achondroplasia can be diagnosed before birth (through the use of an ultrasound in the later stages of pregnancy). Ultrasounds can show shorter than average arms and legs, or whether the baby's head is larger than average. There are other types of dwarfism that can be diagnosed even earlier inpregnancy  and there are other types that can't be diagnosed until after birth.  There is no cure available for dwarfism caused by genetic disorders. Prevention and treatment of accompanying health concerns are the only course of action available at this time for little people and their families.

22. Are there Treatments for Dwarfism? Mohamed M.Elsaied 2016/2017 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.

23. Reference Mohamed M.Elsaied 2016/2017 Little People of America. (2005, June 28). What is Dwarfism? Retrieved from http://www.pbs.org/pov/bigenough/special_dwarfism.php Mayo Clinic Staff. (2011, August 27). Dwarfism . Retrieved from http://www.mayoclinic.com/health/dwarfism/DS01012 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/   Seattle Children's Hospital, Research & Foundation.. "Dwarfism and Bone Dysplasias " .