1. 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/

2. Achondroplasia GeneReviews entry expert authored peer reviewed Disease characteristics. achondroplasia is characterized by abnormal bone growth that results in Genetic counseling. achondroplasia is inherited in an autosomal dominant manner 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 (chromosomal locus 4p16.3). 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

3. Achondroplasia a CHORUS notecard document about achondroplasia Feedback. Search. achondroplasia. most common type of short limbed dwarfism; caused by defect in enchondral bone formation http://chorus.rad.mcw.edu/doc/01026.html

CHORUS Collaborative Hypertext of Radiology Musculoskeletal system Feedback Search achondroplasia most common type of short limbed dwarfism; caused by defect in enchondral bone formation => shortening of tubular bones with normal shaft caliber x-ray features: short extremities and ribs v. trunk length "ball-in-socket" epiphyses pelvis: squared iliac wings and narrow sacrosciatic notch ("champagne glass") hands: fingers widely opposed and equal length ("trident hands") skull: enlarged vault and mandible, small f. magnum spine: narrow AP diameter with concave posterior surface and spinal canal only 1/2 normal depth decreased lumbar interpediculate distance hypoplastic (" bullet nose ") T-L vertebrae Brian Funaki, MD - 6 February 1995 Last updated 26 May 2004 Medical College of Wisconsin

4. MedlinePlus Medical Encyclopedia: Achondroplasia sized trunk, and waddling gait. achondroplasia is the most common type of dwarfism. achondroplasia can be inherited as an autosomal dominant http://www.nlm.nih.gov/medlineplus/ency/article/001577.htm

@import url(http://www.nlm.nih.gov/medlineplus/images/advanced.css); Skip navigation Medical Encyclopedia Other encyclopedia topics: A-Ag Ah-Ap Aq-Az B-Bk ... Z Achondroplasia Contents of this page: Definition Causes, incidence, and risk factors Symptoms Signs and tests ... Prevention Definition Achondroplasia is a 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 can be inherited as an autosomal dominant trait, which means that if a child gets the defective gene from one parent, he or she will have the disorder. However, the majority of cases, approximately 80%, appear as spontaneous mutations. This means that two patients without achondroplasia may give birth to a baby with achondroplasia. 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%. Symptoms Typical appearance of achondroplastic dwarfism is apparent at birth: Short stature Short limbs

5. Achondroplasia achondroplasia. view 18 KB version. view 9 KB version. This girl has short limbs relative to trunk length. Note also the prominent forehead, low nasal root, and redundant skin folds in the arms and http://medgen.genetics.utah.edu/photographs/pages/achondroplasia.htm

Achondroplasia view 18 KB version view 9 KB version This girl has short limbs relative to trunk length. Note also the prominent forehead, low nasal root, and redundant skin folds in the arms and legs. Examinations Photographs Movies Links ... noJava Home

6. Achondroplasia achondroplasia. By the Human Growth Foundation. Copyright © 1996 by the Human Growth Foundation. All rights reserved. Acknowledgements. The Human Growth Foundation is a nonprofit volunteer organization. More than 100 specific skeletal dysplasias have been identified. Of these, achondroplasia is the most common http://home.earthlink.net/~dkennedy56/dwarfism_hgfachon.html

Achondroplasia By the Human Growth Foundation Acknowledgements The Human Growth Foundation is a nonprofit volunteer organization. Its mission is to help individuals with growth-related disorders, their families, and health-care professionals through education, research, and advocacy. It is composed of concerned parents and friends of children with growth problems and interested health professionals. Its objectives include: Support of research Family education, service, and support Public education Education of health-care professionals Advocacy on behalf of individuals with growth problems and their families This booklet was written by Charles I. Scott Jr., MD. This edition was revised and edited by Clair A. Francomano, MD; William Horton, MD; Patricia Rieser, FNP-C; Ruth E. Ricker; and the Education Committee of the Human Growth Foundation. Publication sponsored by Human Growth Foundation and the National Center for Human Genome Research. Revised August 1996. In memory of Eric Vonderlieth Introduction There are many conditions and diseases that can cause short stature. Some of these conditions involve a primary bone disorder the bones do not grow and develop normally. These conditions are called

7. Achondroplasia:Help And Information From The UK 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. 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.

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

View All Chapters Find Your Local Chapter June 2, 2004 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?

9. Medical References: Achondroplasia Quick Reference and Fact Sheets. achondroplasia What is achondroplasia? achondroplasia is a genetic disorder of bone growth that is evident at birth. http://www.marchofdimes.com/printableArticles/681_1204.asp

View All Chapters Find Your Local Chapter June 2, 2004 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?

10. Achondroplasia - Health And Medical Information: Diseases And Conditions, Medica What is achondroplasia? achondroplasia is a genetic (inherited) condition that results in abnormally short stature. All persons http://www.medicinenet.com/Achondroplasia/article.htm

Click Here MedicineNet Home > Achondroplasia Advanced Search Printer-Friendly Format Add to Favorites Email to a Friend ... Next page Achondroplasia What is achondroplasia? What are the characteristics of achondroplasia? How is achondroplasia diagnosed? What can be done for patients 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.

11. Medical References: Achondroplasia achondroplasia, a genetic disorder of bone growth evident at birth, is the most common growth related birth defect. Affected individuals have disproportionally short arms and legs and other What http://www.modimes.org/professionals/681_1204.asp

View All Chapters Find Your Local Chapter June 2, 2004 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?

12. 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/

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.

13. Johns Hopkins Orthopaedic Surgery: Pediatrics / Achondroplasia Patient Guide to achondroplasia. What is achondroplasia? achondroplasia refers to the abnormal development of cartilage ( chondro ). http://www.hopkinsmedicine.org/orthopedicsurgery/peds/achondroplasia.html

Patient Guide to Achondroplasia What is achondroplasia? "Dyplasia" means abnormal development. "Achondroplasia" refers to the abnormal development of cartilage ("chondro"). Because the skeleton develops by the ossification of cartilage, this leads to an abnormal development of the bones, most commonly causing them to be much shorter than normal. Achondroplasia is the most common of all skeletal dysplasias. This condition leads to patients attaining a full grown height under four feet. The greatest shortening occurs in the humerus (the bone between the shoulder and the elbow) and the femur (the bone between the hip and the knee). There may also be underdevelopment of the face. What causes achondroplasia? Achondroplasia is a genetic disease. This means that a gene that directs a specific process in the body does not work properly. In this particular condition, a protein in the body called the "Fibroblast Growth Factor Receptor" begins to function abnormally. The result is that the growth of bones, which normally occurs in the cartilage of the growth plate, is slowed. This leads to shorter bones, abnormally shaped bones, and shorter stature. The genetic defect can be passed from a parent to his or her child. In the case of achondroplasia, however, it more commonly is the result of a spontaneous mutation (a sudden genetic defect) that occurs in the developing embryo.

14. Achondroplasia achondroplasia. Subject achondroplasia Title achondroplasia Author(s)JournalBookVol Date 85/5 Page(s)Organization March of Dimes Birth Defects Foundation, Genetic Counseling Svcs. http://med-aapos.bu.edu/PediRef/Achondroplasia.html

15. Achondroplasia This is a technical description of the dwarfing conditions known as achondroplasia. Greenberg Center for Skeletal Dysplasias. achondroplasia. http://www.hopkinsmedicine.org/greenbergcenter/achon.htm

Greenberg Center for Skeletal Dysplasias Achondroplasia Achondroplasia is the most common form of short-limb dwarfism. It occurs in approximately 1 in 26,000 to 1 in 40,000 births. The characteristic features of achondroplasia are apparent at birth. These include typical facial features, disproportionate short stature, and rhizomelic (the proximal ends of the limbs) shortening. Diagnosis of achondroplasia is made by physical exam and skeletal x-rays. Most individuals have normal intelligence. Infants and children often have motor delays but cognitive delays are not present. A special infant developmental chart has been made for children with achondroplasia. Final adult height is in the range of 4 feet. Special achondroplasia growth curves have also been made. These should be used by the child's pediatrician to monitor growth and development. The facial features include a large head with a prominent forehead. The midface is often small with a flat nasal bridge and narrow nasal passages. In infancy and childhood, middle ear infections often occur because of the small nasal passages and Eustachian tube dysfunction. If the ear infections are left untreated, hearing loss can occur. "Ear tubes" are probably indicated for a child with multiple ear infections. The jaw appears to be prominent. Occasionally dental crowding can occur since the jaw is small. Respiratory problems can occur in infants and children. Airway obstruction can be "central" in origin (due to foramen magnum compression) or "obstructive" in origin (due to narrowed nasal passages). Symptoms of airway obstruction include snoring, sleeping with the neck in a hyperextended position, or apnea. A sleep study is done if these symptoms exist to determine the cause of the airway obstruction. Treatment depends on the type of obstruction. I f central obstruction is present, a foramen magnum decompression is performed (see below). If obstructive airway obstruction is present, therapy can include tonsillectomy, adenoidectomy, or tracheostomy placement.

16. Www.nlm.nih.gov/cgi/mesh/2K/MB_cgi?term=Achondroplasia More results from www.nlm.nih.gov HealthCentral Pediatrics Encyclopedia - achondroplasia Pediatric Health Encyclopedia, achondroplasia. Causes, incidence, and risk factors achondroplasia is an inherited disorder of bone growth. http://www.nlm.nih.gov/cgi/mesh/2K/MB_cgi?term=Achondroplasia

17. Musculoskeletal Diseases achondroplasia. About achondroplasia Greenberg C., Johns Hopkins (US). achondroplasia - March of Dimes (US). achondroplasia Information and Support - (UK). http://www.mic.ki.se/Diseases/C05.html

search search staff sitemap ABOUT KAROLINSKA INSTITUTET ... print this page Diseases and Disorders Links pertaining to Musculoskeletal Diseases Alert! Patients and laypersons looking for guidance among the target sources of this collection of links are strongly advised to review the information retrieved with their professional health care provider. Start Page Contents: Achondroplasia Achondroplasia Acquired Hyperostosis Syndrome Acrocephalosyndactylia ... Tietze's Syndrome Musculoskeletal Diseases Textbook of Orthopaedics [CR Wheeless] Educational textbook syllabus [Borrill et al.] - Orthoteers (UK) The Belgian OrthoWeb - (BE) Site Map of the Orthopaedics and Sports Medicine resource at Univ of Washington, Seattle (US) The American Academy of Orthopaedic Surgeons A Musculoskeletal Atlas and a set of educational cases (radiol.) - U of Washington (US) OrthoLinx WorldOrtho including A Simple Guide to Orthopaedics [RL Huckstep] - Nepean Hosp., Sydney (AU) A collection of Case discussions at OrthoGate.org An orthopedic Encyclopedia - for patients - DynoMed.com

18. Achondroplasia 4-1521 The Teddy Bear Foundation For achondroplasia Us, achondroplasia. States; Turner Syndrome Society of Canada. Copyright © 1998, The Teddy Bear Foundation For achondroplasia, Inc. http://www.sbu.ac.uk/~dirt/museum/p4-1521.html

Achondroplasia 4-1521 To see Images first. Achondroplasia is the commonest disproportionate dwarfism. It is inherited as an autosomal dominent. 85% of case incidence is from a spontaneous mutation. The main feature is a symmetrical proximal limb shortening, rhizomelia, the humeri and femora are particularly affected. Metaphyseal irregularity takes the form of cupping or a 'V' shaped metaphyseal notch. The other features are: Smaller square iliac bones, horizontal acetabular roofs, delayed appearance of ossification, pelvic tilt with lumbar lordosis, narrow sacro-iliac notch, flattened verebral bodies, occasional short a-p diameter of vertebrae or occasionial bullet shape to anterior vertebral border, spinal stenosis, posterior scalloping of vertebrae, small skull base, compensating large vault with appearance of frontal bossing, small foramen magnum, short ribs with widened anterior ends, Trident hand, similar lengths of generally shorter fingers. Neurological bladder and hydrocephalus may complicate the axial stenoses. Various anatomic expressions of pathology.

19. FOMOTC: Florida Orgaization Of Mothers Of Twins Clubs Monday, May 10, 2004 TeddyBear Foundation for achondroplasia, Inc. PO Box 148 Fanwood, NJ 07023 Phone (908) 8897666 FAX (908) 889-7717. http://www.teddybearfoundation.org/

Wednesday, June 2, 2004 TeddyBear Foundation for Achondroplasia, Inc. P.O. Box 148 Fanwood, NJ 07023 Phone: (908) 889-7666 FAX: (908) 889-7717 Web Site designed and hosted by

20. Uhrad.com - Pediatric Imaging Teaching Files uhrad.com Pediatric Imaging Teaching Files. Case Forty Three - achondroplasia. Click on Images for Enlarged View Diagnosisachondroplasia. http://www.uhrad.com/pedsarc/peds043.htm

uhrad.com - Pediatric Imaging Teaching Files Case Forty Three - Achondroplasia Click on Images for Enlarged View Clinical History: Patient is a short-limbed dwarf with relatively long trunk and a large head with a prominent forehead. Radiologic Findings: : (a) short flat vertebral bodies, lack of normal increase in interpediculate distance from upper lumbar vertebrae caudally, short pedicles with narrow vertebral canal; (b) squared iliac wings, short narrow sciatic notch, flat acetabular roof; ( c ) micromelia, short and thick tubular bones, notched (V-shaped) growth plates creating ball-in-socket epiphyseal-metaphyseal junctions, flared metaphyses, fibular overgrowth. Diagnosis: Achondroplasia. Discussion: Achondroplasia is the most common nonlethal skeletal dysplasia with a frequency of approximately 1 per 13,500-26,000 live births. The mode of inheritance is autosomal dominant with spontaneous mutations accounting for 80-85% of cases. The patient's mentality is usually normal. Other radiologic manifestations include a large skull with a relatively small base, a narrow foramen magnum and a small posterior fossa. In the infant, the normal sharp demarcation of the cartilage-shaft junction is lacking in the long bones, the cartilage space between opposing bones is excessively wide and, in the spine, the intervertebral spaces are often as high as the ossified portions of the bodies. With increasing age, posterior scalloping of the vertebral bodies is noted. Clinical complications of achondroplasia include hydrocephalus and paraplegia from the constrictive effects of the skull and spine.

A  B  C  D  E  F  G  H  I  J  K  L  M  N  O  P  Q  R  S  T  U  V  W  X  Y  Z

Page 1     1-20 of 96    1  | 2  | 3  | 4  | 5  | Next 20