41. Achondroplasia achondroplasia. Karen Watts. October 27, 1997. Clinical signs of achondroplasia.achondroplasia is the most common of shortlimbed http://www.mssc.edu/biology/B305/GTS/fs97/achond/achond.htm

Achondroplasia Karen Watts October 27, 1997 Clinical signs of Achondroplasia Achondroplasia is the most common of short-limbed dwarfism caused by rhizmelic shortening of the limbs. A large head with frontal bossing and a mid-face hypoplasia is obvious. Patients exhibit a long narrow trunk with exaggerated lumbar lordosis. A notchlike sacroilliac groove and cuadad narrowing of the interpediculate distance are radiographic features. The extremities display several characteristics. There is a lack of extension in the elbows, the legs are bowed, and the hands are trident, or deviated towards the ulna, and are short and broad. The normal adult height is 131 cm for males and 125 cm for females. There is a mild hypotonia, and motor milestones are usually delayed. Children with achondroplasia have normal muscle tone by the age of two or three years and will continue to have normal intelligence as well as a normal life span. Sleep apnea is a common trait among those effected. (OMIM) Inheritance Pattern Achondroplasia is an autosomal dominate genetic disease with essentially complete penetrance. Seven-eights of the cases result from new mutations. One infant out of every twenty-five thousand births is effected. (OMIM)

42. EMedicine - Achondroplasia : Article By Joo-Hee Grace Park, DO achondroplasia achondroplasia is a common nonlethal form of chondrodysplasia.It achondroplasia. Last Updated December 6, 2002, http://www.emedicine.com/PED/topic12.htm

(advertisement) Home Specialties CME PDA ... Patient Education Articles Images CME Patient Education Advanced Search Link to this site Back to: eMedicine Specialties Pediatrics Genetics And Metabolic Disease Achondroplasia Last Updated: December 6, 2002 Rate this Article Email to a Colleague Synonyms and related keywords: short stature, chondrodystrophy, skeletal dysplasia, osteochondrodysplasia, disproportionately short stature, dwarfism, rhizomelic shortening of limbs, disproportionately long trunk, trident hands, midfacial hypoplasia, prominent forehead, frontal bossing, thoracolumbar gibbus, megalencephaly, caudal narrowing of interpedicular spaces, chondrodysplasia AUTHOR INFORMATION Section 1 of 11 Author Information Introduction Clinical Differentials ... Bibliography Author: Joo-Hee Grace Park, DO , Clinical Assistant Instructor, Department of Pediatric Emergency Medicine, St Christopher's Hospital for Children Coauthor(s): Robert Wallerstein, MD , Chief, Genetics Service, Department of Pediatrics, Hackensack University Medical Center Joo-Hee Grace Park, DO, is a member of the following medical societies:

43. EMedicine - Achondroplasia : Article By Shital N Parikh, MBBS, MS, MD achondroplasia The skeletal dysplasias are a heterogeneous group of disorderscharacterized by intrinsic abnormalities in the growth and/or remodeling of http://www.emedicine.com/orthoped/topic4.htm

(advertisement) Home Specialties CME PDA ... Patient Education Articles Images CME Patient Education Advanced Search Link to this site Back to: eMedicine Specialties Orthopedic Surgery Pediatrics Achondroplasia Last Updated: December 31, 2002 Rate this Article Email to a Colleague Synonyms and related keywords: rhizomelic dwarfism, short-limb dwarfism, short-trunk dwarfism, chondrodystrophia fetalis, classic chondrodystrophy, dyschondroplasia fetalis, chondrodysplasia, micromelia, skeletal dysplasia, little people, achondroplastic, skeletal dysplasia AUTHOR INFORMATION Section 1 of 11 Author Information Introduction Clinical Differentials ... Bibliography Author: Shital N Parikh, MBBS, MS, MD , Clinical Fellow, Department of Orthopedic Surgery, Cincinnati Children's Hospital Coauthor(s): Preeti Batra, MBBS, MD , Staff Physician, Department of Radiology, VS Hospital, India Editor(s): Charles T Mehlman, DO, MPH , Director, Musculoskeletal Outcomes Research, Assistant Professor, Division of Pediatric Orthopedic Surgery, Children's Hospital Medical Center Cincinnati; Francisco Talavera, PharmD, PhD

44. Achondroplasia Medical Etymology Arts And Humanities achondroplasia. Under current definitions, achondroplasia is a birthdefect because its cause or etiology is present at birth. http://www.consultsos.com/pandora/intr0806.htm

Classic Etymology Medicine - Mythology - Arts - Sciences Medical Etymology MedWord WordWise Genealogy Nature and Sense in Words Notes, Comments and Reflections Pandora's Word Box W. Wertelecki, M.D. Requests Comments Links to Key Word Ideas Abnormal Achondroplasia Austri Beth ... Westri Achondroplasia DWARF MIDGET FACTSHEET Introduction Roman statuette of a Achondroplast A classic portrayal. Under current definitions, achondroplasia is a " birth defect " because its cause or etiology is present at birth. The term " achodroplasia " is inaccurate because it denotes "lack" instead of abnormal cartilage. More accurate are the terms " chodrodysplasia " or " chondrodystrophy " which imply abnormal cartilage tissue formation and sustenance but these terms apply to many other disorders in addition to achondroplasia. In any case, "achondroplasia" is, for the time being, the most precise term, regardless of its etymology. Extract from a Classic Description (Josef Warkany, in Congenital Malformations, Year Book Publishers, 1971.)

45. Achondroplasia achondroplasia. This figure reflects both a high rate of mutation for the trait anda reduction in reproductive success of individuals who have achondroplasia. http://www.usoe.k12.ut.us/curr/Science/core/bio/genetics/achondroplasia.htm

Achondroplasia Inheritance autosomal dominant Occurrence 1 in 26,000 (it affects all races and both genders) Description a growth defect causing abnormal body proportions; the arms and legs are very short while the torso is nearly normal in size Testing there is a prenatal test Cause and Location of gene a mutation in the gene for a fibroblast growth factor receptor; chromosome 4 Punnett Squares Background: Despite its autosomal dominant inheritance, seven-eighths of new cases are the result of new mutation. This figure reflects both a high rate of mutation for the trait and a reduction in reproductive success of individuals who have achondroplasia. This is a great example to be used when teaching students about autosomal dominant disorders. Heterozygous individuals have the described condition and symptoms, but homozygous dominant fetuses have such severe skeletal abnormalities that spontaneous abortion occurs. This is why prenatal testing is strongly encouraged if both parents have achondroplasia. Activity: Below are five problems which require an understanding of Punnett squares. These questions provide a way to measure studentsir comprehension and understanding.

46. Achondroplasia For Medical Professionals only. achondroplasia,, Print this article, Homozygousachondroplasia is more severe than the usual heterozygous form. http://www.amershamhealth.com/medcyclopaedia/Volume VII/achondroplasia.html

Medcyclopaedia About Medcyclopaedia Amersham Health Search for: Type a word or a phrase. All forms of the word are searchable. Advanced search Browse entry words starting with: A B C D ... Other characters Try our Medcyclopaedia Premium Edition with added tools and functionality tailored to make your working day easier. The following tools are presently available: Expanded search *For Medical Professionals only, registration required Achondroplasia, a skeletal dysplasia with short limbs and a characteristic facial appearance and body habitus. Inheritance is autosomal dominant, though most cases are sporadic. Homozygous achondroplasia is more severe than the usual heterozygous form. The primary disorder lies in the maturation of chondroplasts in the epiphyses which produces inadequate enchondral bone formation. The clinical features are: rhizomelic short limb dwarfism, normal intelligence, large skull vault, with small recessed nasal root and stubby trident-like hands. The radiological findings include: Skull: large skull vault, brachycephaly, short skull base, small foramen magnum. Hydrocephalus may occur secondary to obstructed venous return.

47. Achondroplasia Professionals only. achondroplasia,, Print this article, a For a generaldescription, see achondroplasia. In achondroplasia affected http://www.amershamhealth.com/medcyclopaedia/Volume III 1/achondroplasia.html

Medcyclopaedia About Medcyclopaedia Amersham Health Search for: Type a word or a phrase. All forms of the word are searchable. Advanced search Browse entry words starting with: A B C D ... Other characters Try our Medcyclopaedia Premium Edition with added tools and functionality tailored to make your working day easier. The following tools are presently available: Expanded search *For Medical Professionals only, registration required Achondroplasia, a hereditary disorder of growth and maturation of the chondroblasts of the epiphyses leading to dwarfism from inadequate endochondral bone formation. For a general description, see achondroplasia Homozygous achondroplasia is a lethal, extremely rare type of congenital short-limbed dwarfism causing death within the first days or weeks of life. The abnormalities are more severe than those in the classic heterozygous form. DR The Encyclopaedia of Medical Imaging Volume III:1 Welcome to Medcyclopaedia. This site is open to a public audience, still we want to know a little more about our visitors. Please tick off the boxes that match your profile. Do you live in Europe?

48. Qango : Health: Diseases And Conditions: A: Achondroplasia Qango Directory achondroplasia all of Qango only this category Options Help.Home Health Diseases and Conditions A achondroplasia, Suggest a Site. http://www.qango.com/dir/Health/Diseases_and_Conditions/A/Achondroplasia/

Chat Forums Free Email Personals Classifieds ... Help Qango Directory Achondroplasia all of Qango only this category Options Help Home Health ... A > Achondroplasia Suggest a Site Health, etc If you would like to suggest a site for this category please click here Home Health Diseases and Conditions ... A > Achondroplasia Suggest a Site Home Suggest a Site Search ... Login

49. Gale Encyclopedia Of Medicine: Achondroplasia achondroplasia. Author/s Rosalyn S. CarsonDeWitt. Definition. achondroplasiais the most common cause of dwarfism, or significantly abnormal short stature. http://www.findarticles.com/cf_0/g2601/0000/2601000008/p1/article.jhtml

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50. Achondroplasia - Lucile Packard Children's Hospital achondroplasia What is achondroplasia? achondroplasia is a genetic (inherited)bone disorder that occurs in one in 20,000 live births. http://www.lpch.org/DiseaseHealthInfo/HealthLibrary/diabetes/achondro.html

Diabetes Clinic Endocrinology Endocrinologists Diabetes and Other Endocrine and Metabolic Disorders Achondroplasia What is achondroplasia? Achondroplasia is a genetic (inherited) bone disorder that occurs in one in 20,000 live births. Achondroplasia is the most common type of dwarfism, in which the child's arms and legs are short in proportion to body length. Further, the head is often large and the trunk is normal size. The average height of adult males with achondroplasia is 52 inches (or 4 feet, 4 inches). The average height of adult females with achondroplasia is 49 inches (or 4 feet, 1 inch). What causes achondroplasia? Achondroplasia is inherited by an autosomal dominant gene that causes abnormal cartilage formation. Autosomal dominant inheritance means that the gene is located on one of the autosomes (chromosome pairs 1 through 22). This means that males and females are equally affected. Dominant means that only one gene is necessary to have the trait. When a parent has a dominant trait, there is a 50 percent chance that any child they have will also inherit the trait. So, in some cases, the child inherits the achondroplasia from a parent with achondroplasia. The majority of achondroplasia cases (80 percent), however, are the result of a new mutation in the family - the parents are of average height and do not have the abnormal gene. As mentioned, persons with achondroplasia have a 50 percent chance to pass the gene to a child, resulting in the condition. If both parents have achondroplasia, with each pregnancy, there is a 50 percent chance to have a child with achondroplasia, a 25 percent chance that the child will not inherit the gene and be of average height, and a 25 percent chance that the child will inherit one abnormal gene from each parent, which can lead to severe skeletal problems that often result in early death.

51. University Of Miami School Of Medicine - Glossary - Achondroplasia Diseases and Conditions. achondroplasia. achondroplasia. achondroplasiaAt A Glance. achondroplasia is a genetic disorder of bone growth. http://www.med.miami.edu/patients/glossary/art.asp?articlekey=256

52. Achondroplasia joint spaces. Pathology So what is the cause of achondroplasia? A chemicalchange within a single gene causes achondroplasia. It is http://www.xray2000.f9.co.uk/radpath/a/achondroplasia.htm

Achondroplasia Definition achondroplasty; osteosclerosis congenita; Parrot's disease (2); a type of chondrodystrophy characterized by an abnormality of conversion of cartilage into bone, predominantly affecting the epiphyses of long bones in which epiphysial growth is retarded and ceases early, resulting in dwarfism apparent at birth, with short extremities, but normal trunk; the head is frequently enlarged, with flattened nose, due to midfacial hypoplasia; autosomal dominant inheritance. Radiographic Appearance - Radiology: Skeletal X-Ray Short bowed wide bones with expanded ends Increased bone density Characteristic cupping of metaphases Incomplete glenoid fossa and acetabulum Wide joint spaces Pathology So what is the cause of Achondroplasia? A chemical change within a single gene causes Achondroplasia. It is not caused from anything the parents have done during pregnancy, the condition has started from a autosomal dominate condition. What this means is that a new mutation or genetic change has started during conception. The condition may also be passed on from one generation to the next; nine out of ten children born with this condition have average-sized parents. If one parent has Achondroplasia there is a 50% chance there child will inherit a single copy of the gene, if both parents have Achondroplasia there is a 25% chance the child will have a double dominant gene and a 75% chance of a single Achondroplasia gene: The gene is called FIBROBLAST GROWTH FACTOR RECEPTOR

53. ACHONDROPLASIA achondroplasia. General Info about achondroplasia. achondroplasia is a disorderof bone growth. achondroplasia literally means without cartilage formation . http://www.medindia.net/patients/patientinfo/achondroplasia.asp

WAP About Us Chat Contact ... Feedback March 30, 2003 Search Home Directories Professionals Consumer Health ... W ACHONDROPLASIA General Info about Achondroplasia Achondroplasia is a disorder of bone growth. Achondroplasia literally means "without cartilage formation" . The problem in this condition is converting the cartilage into bones , particularly the long bones. 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 one of the oldest known birth defects. An average figure worldwide is approximately 1 in 25,000 births. What are the causes Achondroplasia? Mutations (chemical changes) within a single gene cause achondroplasia. The condition may be passed on from one generation to the next or it may result from a new mutation in a gene from average-sized parents. What are the symptoms of Achondroplasia?

54. Handling The Newborn And Young Infant With Achondroplasia Handling The Newborn And Young Infant With achondroplasia. by Dr. CherylS. Reid, MD FAAP Member. Medical Advisory Board, LPA, Inc. http://www.lpo.on.ca/HANDLING.HTM

Handling The Newborn And Young Infant With Achondroplasia by Dr. Cheryl S. Reid, M.D. FAAP Member. Medical Advisory Board, LPA, Inc. A number of families have asked for some general guidelines about the physical handling of newborn and young infants with achondroplasia. Hopefully, this brief article will address some of the most common questions. Introduction: General Guidelines: 1. Avoid devices that bend the back: this includes: Snugli and other soft infant carriers, infant swings (such as the Swing-O-Matic), umbrella strollers and other soft devices. 2. Use hard backed carriages, strollers and supportive devices. 3. Support the baby's head and back of the neck at all times. 4. Avoid trying to get the baby to sit until he or she does it without help. No supported sitting for about the first year. 5. Avoid infant walkers and Johnny Jump-up type devices: they force head support before the baby is ready and may also cause neck injury. 6. Pad the infant car seat around the baby's head to support it and prevent the chin-on-the-chest position. 7. Leave the baby on his or her back or stomach most of the time.

55. Achondroplasia .......achondroplasia. Definition. achondroplasia is the most common cause of dwarfism,or significantly abnormal short stature. http://www.chclibrary.org/micromed/00035870.html

Main Search Index Definition Description Causes ... Resources Achondroplasia Definition Achondroplasia is the most common cause of dwarfism, or significantly abnormal short stature. Description Achondroplasia is one of a number of chondodystrophies, in which the development of cartilage, and therefore, bone is disturbed. The disorder appears in approximately one in every 10,000 births. Achondroplasia is usually diagnosed at birth, owing to the characteristic appearance of the newborn. Normal bone growth depends on the production of cartilage (a fibrous connective tissue). Over time, calcium is deposited within the cartilage, causing it to harden and become bone. In achondroplasia, abnormalities of this process prevent the bones (especially those in the limbs) from growing as long as they normally should, at the same time allowing the bones to become abnormally thickened. The bones in the trunk of the body and the skull are mostly not affected, although the opening from the skull through which the spinal cord passes (foramen magnum) is often narrower than normal, and the opening (spinal canal) through which the spinal cord runs in the back bones (vertebrae) becomes increasingly and abnormally small down the length of the spine. Achondroplasia is caused by a genetic defect. It is a dominant trait, meaning that anybody with the genetic defect will display all the symptoms of the disorder. A parent with the disorder has a 50% chance of passing it on to the offspring. Although achondroplasia can be passed on to subsequent offspring, the majority of cases occur due to a new mutation (change) in a gene. Interestingly enough, the defect seen in achondroplasia is one of only a few defects known to increase in frequency with increasing age of the father (many genetic defects are linked to increased age of the mother).

56. Achondroplasia .......MAIN SEARCH INDEX achondroplasia. Definition. achondroplasia is the most commoncause of dwarfism, or significantly abnormal short stature. http://www.hendrickhealth.org/healthy/000010.htm

MAIN SEARCH INDEX Achondroplasia Definition Description Causes and symptoms Diagnosis ... Resources Definition Achondroplasia is the most common cause of dwarfism, or significantly abnormal short stature. Description Achondroplasia is one of a number of chondodystrophies, in which the development of cartilage, and therefore, bone is disturbed. The disorder appears in approximately one in every 10,000 births. Achondroplasia is usually diagnosed at birth, owing to the characteristic appearance of the newborn. Normal bone growth depends on the production of cartilage (a fibrous connective tissue). Over time, calcium is deposited within the cartilage, causing it to harden and become bone. In achondroplasia, abnormalities of this process prevent the bones (especially those in the limbs) from growing as long as they normally should, at the same time allowing the bones to become abnormally thickened. The bones in the trunk of the body and the skull are mostly not affected, although the opening from the skull through which the spinal cord passes (foramen magnum) is often narrower than normal, and the opening (spinal canal) through which the spinal cord runs in the back bones (vertebrae) becomes increasingly and abnormally small down the length of the spine. Causes and symptoms Achondroplasia is caused by a genetic defect. It is a dominant trait, meaning that anybody with the genetic defect will display all the symptoms of the disorder. A parent with the disorder has a 50% chance of passing it on to the offspring. Although achondroplasia can be passed on to subsequent offspring, the majority of cases occur due to a new mutation (change) in a gene. Interestingly enough, the defect seen in achondroplasia is one of only a few defects known to increase in frequency with increasing age of the father (many genetic defects are linked to increased age of the mother).

57. Dávid Achondroplásiások Társasága torpe dwarfism achondroplasia David achondroplasiasok Tarsasaga liliputi keresSoros Alapitvany niok NIOK Nonprofit Informacois kozpont Little People of http://www.c3.hu/~lphun/ach.htm

A z a c h o n d r o p l a s i a Ismerünk olyan "szerencsés" szülõket, akiknek egyik gyermekük sem örökölte a hibás gént, míg olyan család is van, amelyben mindegyik utód achondroplásiás lett. Mi a helyzet az öröklõdést illetõen, ha két achondroplásiás házasodik össze? Sajnos, a hibás gén átörökítésének kockázata még nagyobb, 75%-os valószínûséggel fordul elõ. Az achondroplasiások utódvállalása egyrészt jelzi, hogy a betegség nem súlyos, a társadalomba általában jól beilleszkednek ezek a "kis emberek", másrészt viszont felveti azt a kérdést, hogy a rendellenesség felismerhetõ-e már a terhesség idõszakban. A felismerhetõség kapcsán ne tévesszük szem elõl azt a tényt, hogy e - szerencsére nagyon ritka - rendellenesség az esetek túlnyomó többségében egészséges szülök gyermekeiben jelentkezik. Nagyon sok öntevékeny csoport jött létre fogyatékosok körében, így az achondroplasiások segítésére az USA- ban létrejött "Kis Amerikaiak Társasága", míg közelmúltban hazánkban a "Dávid Achondroplasiások Társasága" társadalmi egyesület alakult meg........

58. KLUWER Academic Publishers | Human Achondroplasia Books » Human achondroplasia. Human achondroplasia A MultidisciplinaryApproach. edited by Benedetto Nicoletti Second University http://www.wkap.nl/prod/b/0-306-43006-1

Title Authors Affiliation ISBN ISSN advanced search search tips Books Human Achondroplasia Human Achondroplasia A Multidisciplinary Approach edited by Benedetto Nicoletti Second University of Rome, Italy Elio Ascani Bambino Gesu Hospital and Institute of Research, Rome, Italy Victor A. McKusick Johns Hopkins University, Baltimore, MA, USA Executive Editor: Shona C. Dryburgh Tre Emme Congressi, Pisa, Italy Book Series: BASIC LIFE SCIENCES Volume 48 Kluwer Academic/Plenum Publishers Hardbound, ISBN 0-306-43006-1 January 1989, 514 pp. Out of Print Home Help section About Us Contact Us ... Search

59. 1Up Health > Achondroplasia > Causes, Incidence, And Risk Factors Of Achondropla Comprehesive information on achondroplasia . 1Up Health Diseases Conditions achondroplasia Causes, Incidence, and Risk Factors. http://www.1uphealth.com/health/achondroplasia_info.html

1Up Health Achondroplasia Alternative Medicine Clinical Trials ... Health Topics A-Z Search 1Up Health Achondroplasia Information Achondroplasia Causes, Incidence, and Risk Factors Definition : An inherited disorder of bone growth that causes the most common type of dwarfism Causes, Incidence, and Risk Factors Achondroplasia is an inherited disorder of bone growth. It is one of the group of disorders that are collectively called chondrodystrophies or osteochondrodysplasias. The disorder causes a type of dwarfism that is recognized by its characteristic normal to large-sized head, shortened arms and legs (especially the upper arm and thigh), a normal-sized trunk, and waddling gait . Achondroplasia is the most common type of dwarfism. Achondroplasia is inherited as an autosomal dominant trait. However, the majority of cases, approximately 80%, appear as spontaneous mutations. If one parent has achondroplasia, the infant has a 50% chance of inheriting the disorder. If both parents have the condition, the infant's chances of being affected increase to 75%. Previous Next Jump to Another Section of this Guide Definition Causes, Incidence, and Risk Factors

60. Diabetes & Other Endocrine And Metabolic Disorders - Achondroplasia achondroplasia What is achondroplasia? achondroplasia is a genetic (inherited)bone disorder that occurs in one in 20,000 live births. http://www.chkd.org/Diabetes/achondro.asp

More Health Information Adolescent Medicine Allergy/Immunology Anesthesiology Arthritis Burns Cardiology Craniofacial Dental Medicine Dermatology Developmental Peds Diabetes Digestive Ear, Nose, Throat Genetics Gastroenterology Growth Hematology High Risk Newborn High Risk Pregnancy Infectious Disease Mental Health Neonatology Nephrology Neurology Normal Newborn Normal Pregnancy Oncology Ophthalmalogy Orthopaedics Otolaryngology Pediatric Intensive Care Pediatric Surgery Pediatrics Physical Medicine Plastic Surgery Respiratory/Pulmonology Rheumatology Safety Surgery Terminal Transplant Urology Site Search For a doctor who specializes in this topic, click here. Achondroplasia What is achondroplasia? Achondroplasia is a genetic (inherited) bone disorder that occurs in one in 20,000 live births. Achondroplasia is the most common type of dwarfism, in which the child's arms and legs are short in proportion to body length. Further, the head is often large and the trunk is normal size. The average height of adult males with achondroplasia is 52 inches (or 4 feet, 4 inches). The average height of adult females with achondroplasia is 49 inches (or 4 feet, 1 inch). What causes achondroplasia?

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