1. Achondroplasia:Help And Information From The UK Information, pictures of people with the condition, and an open forum. http://www.achondroplasia.co.uk/

2. Achondroplasia Article from eMedicine. http://www.emedicine.com/ped/topic12.htm

3. Achondroplasia Pediatric Oncall Offers information about achondroplasia, the most common type of disproportionate short stature. http://www.pediatriconcall.com/fordoctor/diseasesandcondition/Achondroplasia.asp

DOCTOR CORNER Search GO Home Back Ask Doctor Post Query Education Image Gallery Teaching Files Question of the day Specialist Answers Latest Updates Conference Journal Search Original Articles Clinical Trials Search For Pediatricians Hospitals Special Schools Drug Index ... Sign Out ACHONDROPLASIA UserName Password New Register Forgot password Dr Ira Shah M.D, DCH(Gold Medalist), FCPS, DNB Q: What is achondroplasia ? A: Achondroplasia is derived from Greek and it means "without cartilage formation". Though patients with achondroplasia have cartilage, only a small amount of cartilage in the growth plates of the long bones turns into bone and short stature. It is the most common type of disproportionate short stature. Q: What are the clinical features of achondroplasia? A: The patients have a disproportionate short stature- with a normal trunk, short arms and short legs. There is proximal shortening of the limbs (rhizomelic dwarfism). The average adult height is 4 feet. The head appears larger than the body, with a prominent forehead and flattened bridge of the nose. Teeth may be crowded with poor alignment. Spine is usually straight in the upper back with a marked lumbar lordosis. Abnormalities of the thoracolumbar vertebra may lead to kyphosis in infancy, which disappears once the child starts walking, but may cause spinal cord compression is adolescents. There may be bowing of the legs and feet are generally short and flat. Hands are short with stubby fingers and there may be a trident hand (separation between the middle and ring fingers).

4. AchondroplasiaHelp And Information From The UK achondroplasia is one of the most common form of short limb dwarfism. http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

5. Achondroplasia:Help And Information From The UK Help and Information about the condition called Achondroplasisa,with indepth information, pictures of people with the condition and an open forum. http://www.achondroplasia.co.uk/childhood.html

Health supervision From 1 to 5 years - early childhood Examination 1. Assess the child's growth and development as charted on the achondroplasia growth charts. Obtain lower segment measurements once weight bearing is established. 2. Continue to follow head growth. 3. Continue to watch for thoracolumbar gibbus and development of lumbar lordosis. Discuss avoiding the use of walkers, jumpers, or backpack carriers. Any kyphosis present should disappear as the child begins to bear weight. Weight-bearing and walking may occur late; however, they are expected by 2 years of age. When weight-bearing begins, the external rotation of the hips should self-correct to a normal orientation within 6 months. 4. Anticipate some bowing of the legs because of fibular overgrowth at the knees and ankles. If bowing leads to an inability to walk, consult a pediatric orthopedist. 5. Check the childÕs hips for hip flexion contractures. Prescribe exercises that may decrease lumbar lordosis and hip flexion contractures [19]. Check the hips for external rotation. Refer the child to a pediatric orthopedist, if necessary. 6. Speech evaluation should be done no later than 2 years of age. If speech is abnormally delayed conductive hearing loss due to chronic serious otitis media should be excluded.

6. Achondroplasia achondroplasia is the most common form of inherited disproportionate short stature. It occurs in one in 15 000 to one in 40 000 live births. http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

7. Medical References: Achondroplasia achondroplasia, a genetic disorder of bone growth evident at birth, is the most common growth related birth defect. http://www.marchofdimes.com/professionals/681_1204.asp

View All Chapters Find Your Local Chapter September 8, 2005 Select one Folic Acid Pregnancy Prenatal Screening Infections/Diseases Loss Concerns Newborn Information Birth Defects Polio Genetics Research Funding Perinatal Statistics Medical References Continuing Education ... Prematurity Quick Reference and Fact Sheets Achondroplasia What is achondroplasia? Achondroplasia is a genetic disorder of bone growth that is evident at birth. It affects about one in every 25,000 births and it occurs in all races and in both sexes. Its depiction in ancient Egyptian art makes it one of the oldest recorded birth defects. It is the most common of a group of growth defects characterized by abnormal body proportions — affected individuals have arms and legs that are very short, while the torso is more nearly normal size. The word achondroplasia is derived from Greek and means "without cartilage formation," although individuals with achondroplasia do have cartilage. During fetal development and childhood, cartilage normally develops into bone, except in a few places, such as the nose and ears. In individuals with achondroplasia, something goes wrong during this process, especially in the long bones (such as those of the upper arms and thighs). The rate at which cartilage cells in the growth plates of the long bones turn into bone is slow, leading to short bones and reduced height. What does a person with achondroplasia look like?

8. Dwarfism.org Of these, achondroplasia is the most common, affecting about 80% of all Little People. An individual with achondroplasia has disproportionate http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

9. Quick Reference: Achondroplasia achondroplasia is a genetic disorder of bone growth. It is the most common form of dwarfism. People who have achondroplasia have short arms and legs. http://www.marchofdimes.com/professionals/14332_1204.asp

View All Chapters Find Your Local Chapter September 8, 2005 Select one Folic Acid Pregnancy Prenatal Screening Infections/Diseases Loss Concerns Newborn Information Birth Defects Polio Genetics Research Funding Perinatal Statistics Medical References Continuing Education ... Genetics Quick References and Fact Sheets Achondroplasia What is achondroplasia? Achondroplasia is a genetic disorder of bone growth that is evident at birth. It affects about 1 in 26,000 to 1 in 40,000 births (1, 2), and it occurs in all races and in both sexes. Its depiction in ancient Egyptian art makes it one of the oldest recorded birth defects. It is the most common of a group of growth defects characterized by abnormal body proportions. Affected individuals have arms and legs that are very short, while the torso is nearly normal size. The word achondroplasia is derived from Greek and means "without cartilage formation," although individuals with achondroplasia do have cartilage. During fetal development and childhood, cartilage normally develops into bone, except in a few places, such as the nose and ears. In individuals with achondroplasia, something goes wrong during this process, especially in the long bones (such as those of the upper arms and thighs). The rate at which cartilage cells in the growth plates of the long bones turn into bone is slow, leading to short bones and reduced height. What does a person with achondroplasia look like?

10. Dwarfism Types And Definitions Read a "Patient Guide to achondroplasia" by the Johns Hopkins Department of Orthopaedic Surgery. http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

11. Achondroplasia achondroplasia is characterized by abnormal bone growth that results in short stature FGFR3 is the only gene known to be associated with achondroplasia. http://www.geneclinics.org/profiles/achondroplasia/details.html

Achondroplasia Author: Clair A Francomano, MD, FACMG About the Author / Author History Initial Posting: 12 October 1998 Last Update 31 July 2003 Summary Disease characteristics. Achondroplasia is characterized by abnormal bone growth that results in short stature with disproportionately short arms and legs, a large head, and characteristic facial features. Intelligence and life span are usually normal, although there is an increased risk for death in infancy from compression of the spinal cord and/or upper airway obstruction. Diagnosis/testing. Achondroplasia can be diagnosed by characteristic clinical and radiographic findings in most affected individuals. In individuals who may be too young to diagnose with certainty or in individuals with atypical findings, molecular genetic testing can be used to detect a mutation in the gene . Such testing detects mutations in 99% of affected individuals and is available in clinical laboratories. Genetic counseling Achondroplasia is inherited in an autosomal dominant manner. Over 80% of individuals with achondroplasia have parents with normal stature and have achondroplasia as the result of a de novo gene mutation . Such parents have a low risk of having another child with achondroplasia. An individual with achondroplasia who has a partner with normal stature has a 50% risk in each pregnancy of having a child with achondroplasia. When both parents have achondroplasia, the risk to their offspring of having normal stature is 25%; of having achondroplasia, 50%; and of having

12. Welcome To LPA Online LPA is a nonprofit organization that provides support and information to people of short stature and their families. Here you'll find resources http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

13. GeneReviews: Achondroplasia Your browser does not support HTML frames so you must view achondroplasia in a slightly less readable form. Please follow this link to do so. http://www.geneclinics.org/profiles/achondroplasia/

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14. Medical References Achondroplasia achondroplasia, a genetic disorder of bone growth evident at birth, is the most common growth related birth defect. Affected individuals have http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

15. Achondroplasia - Health And Medical Information Produced By Doctors - MedicineNe Doctorproduced health and medical information written for you to make informed decisions about your health concerns. http://www.medicinenet.com/achondroplasia/article.htm

document.writeln(''); MedicineNet Home > Achondroplasia search help Printer-Friendly Format FREE Newsletters Email to a Friend ... Next Achondroplasia What is achondroplasia? What are the characteristics of achondroplasia? How is achondroplasia diagnosed? What can be done for patients with achondroplasia? ... How is achondroplasia inherited? What if someone with achondroplasia has children? What if two people with achondroplasia have children? What gene causes achondroplasia? What is the molecular story with achondroplasia? Achondroplasia At A Glance What is achondroplasia? Achondroplasia is a genetic (inherited) condition that results in abnormally short stature. All persons with achondroplasia are little people. The average height of an adult with achondroplasia is 131 cm (52 inches, or 4 foot 4) in males and 124 cm (49 inches, or 4 foot 1) in females. Achondroplasia is the most common cause of short stature with disproportionately short limbs. Achondroplasia is a disorder of bone growth. Although achondroplasia literally means "without cartilage formation," the problem in achondroplasia is not in forming cartilage but in converting it to bone, particularly in the long bones. Achondroplasia is one of the oldest known birth defects. The frequency of achondroplasia is estimated to range from about 1 in 10,000 births in Latin America to about 12 in 77,000 in Denmark. An average figure worldwide is approximately 1 in 25,000 births.

16. Human Growth Foundation Home Page Information about growthrelated disorders through education, research, and advocacy. Member driven organization. http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

17. Www.medicinenet.com/rss/specialty/Achondroplasia.xml http://www.medicinenet.com/rss/specialty/Achondroplasia.xml

http://www.medicinenet.com/Achondroplasia/index.htm MedicineNet Achondroplasia Specialty en-us Tue, 9 Aug 2005 00:00:00 PDT Tue, 9 Aug 2005 00:00:00 PDT http://www.medicinenet.com/images/mn_144x35.gif http://www.medicinenet.com/script/main/hp.asp Tue, 9 Aug 2005 00:00:00 PDT Thu, 14 Jul 2005 00:00:00 PDT Fri, 13 May 2005 00:00:00 PDT Thu, 29 Jul 2004 00:00:00 PDT Tue, 22 Jul 2003 00:00:00 PDT Sat, 8 Mar 2003 00:00:00 PDT Thu, 24 Oct 2002 00:00:00 PDT Tue, 25 Jun 2002 00:00:00 PDT Tue, 25 Jun 2002 00:00:00 PDT Thu, 2 May 2002 00:00:00 PDT Fri, 26 Apr 2002 00:00:00 PDT Tue, 16 Apr 2002 00:00:00 PDT

18. Http//www.aap.org/policy/00696.html http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

19. The Teddy Bear Foundation For Achondroplasia The Teddy Bear Foundation For achondroplasia http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

20. EMedicine - Achondroplasia Article By Shital Parikh achondroplasia The skeletal dysplasias are a heterogeneous group of disorders characterized by intrinsic abnormalities in the growth and/or remodeling of http://www.emedicine.com/orthoped/topic4.htm

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