1. Achondroplasia:Help And Information From The UK The most common form of short limb dwarfism. In-depth information, pictures of people with the condition, Category Health Conditions and Diseases Dwarfism......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. Policy Statement Health Supervision for Children With achondroplasia (RE9514). AMERICAN ACADEMYOF PEDIATRICS. The gene for achondroplasia has recently been found. http://www.aap.org/policy/00696.html

Policy Statement Pediatrics Volume 95, Number 3 March, 1995, p. 443-451 Health Supervision for Children With Achondroplasia (RE9514) AMERICAN ACADEMY OF PEDIATRICS Committee on Genetics Fig 1 Fig 2 Fig 3 Fig 4 ... Fig 5 , and Fig 6 ).[4] Other features include disproportionate short stature, with shortening of the proximal segment of the limbs, a prominent forehead, a flattened midface, and an average-sized trunk. The head usually appears relatively large compared with the body. The most common complication, occurring in adulthood, is related to lumbosacral spinal stenosis with compression of the spinal cord or nerve roots.[5,6] This complication is usually treatable by surgical decompression, if diagnosed at an early stage. Fig 7 ).[7] Occasionally in infancy or early childhood there is symptomatic airway obstruction, development of thoracolumbar kyphosis, symptomatic hydrocephalus, or symptomatic upper cord compression. Most individuals with achondroplasia are of normal intelligence and are able to lead independent and productive lives.[8] Because of their disproportionate short stature, however, a number of psychosocial problems can arise. Families can benefit from anticipatory guidance and the opportunity to learn from other families with children of disproportionate short stature. Table ). These guidelines are not appropriate for other chondrodysplasias, because each type has its own natural history, complications, and specific guidelines. It is important that parents also consult a physician with experience and expertise concerning achondroplasia early in their child's development, because these guidelines are intended for the general pediatrician without such experience.

3. Achondroplasia a CHORUS notecard document about achondroplasia achondroplasia. most common type of short limbed dwarfism; caused by defect in enchondral bone formation = shortening 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 14 March 2001 Medical College of Wisconsin

4. Achondroplasia Information and links on achondroplasia Displaying listings 16. achondroplasia achondroplasia. By the Human Growth Foundation. http://www.doctorpage.com/findit/Diseases_and_Conditions/Achondroplasia

doctorpage Diseases and Conditions Achondroplasia Displaying listings 1-6 Achondroplasia Achondroplasia. By the Human Growth Foundation. http://www2.shore.net/~dkennedy/dwarfism_hgfachon.html Achondroplasia http://www.sbu.ac.uk/~dirt/museum/p4-1521.html Achondroplasia  http://www.mssc.edu/biology/B305/GTS/fs97/achond/achond.htm Achondroplasia  http://www.med.jhu.edu/Greenberg.Center/achon.htm Achondroplasia  http://med-aapos.bu.edu/PediRef/Achondroplasia.html Yahoo! - Health:Diseases and Conditions:Achondroplasia  http://www.yahoo.com/text/Health/Diseases_and_Conditions/Achondroplasia/ Listings 1-6 of 6 displayed. Add a Site to This Page Get A Free Site Find Physicians Cosmetic Surgery ... Findit Try this search on... HotBot Infoseek AltaVista Excite ... Metacrawler doctor page .com

5. Welcome To The Kathryn And Alan C Features this, the most common form of shortlimb dwarfism. Includes the features, diagnosing, and a discussion on possible neurological complications. Skeletal Dysplasias Clinical Summaries. achondroplasia. Hypochondroplasia. Pseudoachondroplasia http://www.med.jhu.edu/Greenberg.Center/achon.htm

Welcome to the Kathryn and Alan C. Greenberg Center for Skeletal Dysplasias Web Page Table of Contents Mission Statement Genetics Tutorial Staff and Affiliates Articles of Interest ... Links and References Greenberg Center Mission Statement The Kathryn and Alan C. Greenberg Center for Skeletal Dysplasias is dedicated to the medical care and education of persons with skeletal dysplasias, and to the clinical and laboratory investigation into these conditions. Toward this end, the Center brings together a multidisiplinary team of doctors and investigators dedicated to improving the quality of life for persons of short stature, and furthering basic scientific knowledge about the many causes of dwarfism. Return to Table of Contents Greenberg Center Staff and Affiliates Administrative Staff Victor McKusick, M.D. Director Ms. Kathleen (Dee) Miller Clinical Coordinator Orest Hurko, M.D. Associate Director Mrs. Kay Smith Administrative Coordinator Clinical Affiliates Michael Ain, M.D. Orthopedic Surgery Irene Maumenee, M.D. Opthamology Ivor David Berkowitz, M.D.

6. Achondroplasia:In Depth Information French. Click the picture above for a short movie. achondroplasiais the most common form of short limb dwarfism. This set http://www.achondroplasia.co.uk/indepth.html

French German C lick the picture above for a short movie Achondroplasia is the most common form of short limb dwarfism. This set of guidelines is designed to assist the pediatrician in caring for children with Achondroplasia confirmed by radiographs and physical features. Although pediatricians usually first see children with Achondroplasia during infancy, occasionally they are called on to advise the pregnant woman who has been informed of the prenatal diagnosis of Achondroplasia or asked to examine the newborn to help establish the diagnosis. this This is Tristan at 1 week old (c)2002 Achondroplasia uk Thank you Mum Therefore, these guidelines offer advice for these situations as well. Children affected with Achondroplasia frequently have delayed motor milestones, otitis media, and bowing of the knees Occasionally in infancy or early childhood there is symptomatic airway obstruction, development of thoracolumbar kyphosis, symptomatic hydrocephalus, or symptomatic upper cord compression. Most individuals with Achondroplasia are of normal intelligence and are able to lead independent and productive lives.[8] Because of their disproportionate short stature, however, a number of psychosocial problems can arise. Families can benefit from anticipatory guidance and the opportunity to learn from other families with children of disproportionate short stature. Roxan with her custom made bike, and bike builder Colin

7. GeneReviews: Achondroplasia Your browser does not support HTML frames so you must view achondroplasiain a slightly less readable form. Please follow this link to do so. http://www.geneclinics.org/query?dz=achondroplasia

8. Achondroplasia achondroplasia. Author Clair A Francomano, MD, FACMG National Institutesof Health. Table 1. Molecular Genetic Testing Used in achondroplasia. http://www.geneclinics.org/profiles/achondroplasia/details.html

Achondroplasia Author: Clair A Francomano, MD, FACMG National Institutes of Health Initial Posting: 12 October 1998 Last Update 8 March 2001 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 an increased risk is present 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 atypical cases, molecular genetic testing can be used to detect a mutation in the gene (chromosomal locus 4p16.3). Such testing is 99% sensitive 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 new gene mutation. These parents with normal stature 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 risks to their offspring are: 25% normal stature; 50% achondroplasia; and 25% homozygous achondroplasia, which is a lethal condition. Prenatal molecular genetic testing is available.

9. OMIM ENTRY 100800 achondroplasia. American Association for Pediatric Ophthalmology and Strabismus(AAPOS) http://www3.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?100800

10. ACHONDROPLASIA achondroplasia. DEFINITION Health Supervision for Children with achondroplasiaachondroplasia Little People of America LPA Medical Advisory Board. http://www.icondata.com/health/pedbase/files/ACHONDRO.HTM

Pediatric Database (PEDBASE) Last Updated: 11/02/97 ACHONDROPLASIA DEFINITION: A non-lethal type of congenital dwarfism characterized by typical skeletal dysplasias (rhizometric micromelia), a large head, and neurological manifestations. EPIDEMIOLOGY: incidence: 1/25,000 births (most common skeletal dysplasia) age of onset: newborn risk factors: familial - autosomal dominant, (but with a high spontaneous mutation rate [50-80%]) chrom.#: 4p gene: fibroblast growth factor receptor-3 gene increased paternal age M = F PATHOGENESIS: 1. Background the fibroblast growth factor receptor-3 gene (FGFR3 gene) is a transmembrane receptor comprised of three domains: an extracellular ligand-binding domain consisting of three immunoglobulin-like (sub)domains a transmembrane domain an intracellular cytoplasmic domain consisting of two tyrosine kinase (sub)domains a mutation in the FGFR3 gene as the cause of Achondroplasia was first reported by two groups - Shiang et al., Cell 78:335 (1994); Rousseau et al., Nature 371:252 (1994). there are several disorders which arise from mutations within the FGFR3 gene: 1. Chondrodysplastic Disorders

11. Musculoskeletal Diseases Paintings of Sebastian de Morra and Francisco Lezcano, by Velazquez; achondroplasia achondroplasiaradiology images; I Maddison South Bank Univ. http://www.mic.ki.se/Diseases/c5.html

search help staff Musculoskeletal Diseases 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. Alphabetical List of Diseases Search PubMed at NCBI/NLM 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 A collection of Case discussions at OrthoGate.org An orthopedic Encyclopedia - for patients - DynoMed.com Anatomy Links - KIB (SE) ChiroWeb .com [chiropractics] An Orthopedics hyperguide [userID + pswd required] - stryker/SLACK Inc. Orthopaedic Images from OrthoTrauma.Net Some PowerPoint presentation [note: IE Explorer only] from Dept of Orthopaedic Surgery, Edinburgh (UK) Radiographic Anatomy Modules , and about some Orthopaedic Hardware - Univ of Washington/School of Medicine/Radiology Orthopedic Institute of Southern California (US) Teaching Module on Anatomy using Joint Fluoroscopy - University of Iowa (US) Bone, Joint, and Necrotizing Soft Tissue Infections

12. Achondroplasia achondroplasia Subject achondroplasia Title achondroplasia Author(s) JournalBook Vol Date 85/5 Page(s) Organization March of Dimes Birth Defects http://med-aapos.bu.edu/pediref/achondroplasia.html

Achondroplasia Subject: Achondroplasia Title: Achondroplasia Author(s): Journal: Book: Vol: Date: Page(s): Organization: March of Dimes Birth Defects Foundation, Genetic Counseling Svcs. Address: 1275 Mamaroneck Avenue City: White Plains State: NY Zip: Phone: (914) 428-71 00 or your local March of Dimes office Type: Fact sheet Subject: Achondroplasia Title: An introduction to your child who has Achondroplasia Author(s): Journal: Book: Vol: Date: Page(s): Organization: Medic Publishing Company Address: P.O. Box 89 City: Redmond State: WA Zip: Phone: (206) 881-2883; fax (206) 867-8939 Type: Booklet Subject: Achondroplasia Title: Achondroplasia Author(s): Joumal: Book: Vol.: Date: 1993 Pages: Organization: National Organization for Rare Disorders, Inc. Address: P.O. Box 8923; 100 Route 37 City: New Fairfield . State: CT Zip: Phone: Type: Fact sheets Subject: Achondroplasia Title: Achondroplasia Web Site Author(s): Joumal: Book: Vol.: Date:

13. Achondroplasia 4-1521 Similar pages achondroplasia 41521achondroplasia 4-1521. To see Images first. achondroplasia is the commonestdisproportionate dwarfism. It is inherited as an autosomal dominent. 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.

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

View All Chapters Find Your Local Chapter March 30, 2003 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?

15. Medical References: Achondroplasia achondroplasia What Is achondroplasia? achondroplasia is a geneticdisorder of bone growth that is evident at birth. It affects http://www.marchofdimes.com/printableArticles/681_1204.asp

View All Chapters Find Your Local Chapter March 30, 2003 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 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?

16. March Of Dimes: Achondroplasia achondroplasia. Public Health Education Information Sheet. Genetic Series. achondroplasiais the most common growth defect of this type. What Is achondroplasia? http://www.noah-health.org/english/pregnancy/march_of_dimes/birth_defects/achond

Ask NOAH About: Pregnancy Achondroplasia Public Health Education Information Sheet Genetic Series Introduction. What Is Achondroplasia? How Does Achondroplasia Affect a Child? What Causes Achondroplasia? ... References: Introduction There are hundreds of reasons why some children never reach expected height as adults. Many are short in stature because of family or ethnic background. Others have a wide variety of medical conditions, many of them genetic, that seriously limit overall growth, or growth of specific parts of the body, such as the limbs or the torso. Some causes of short stature are well-understood and can be corrected, but most are subjects of ongoing research. In some cases, individuals with growth defects are extremely short and have normal body proportions. In other cases, they have abnormal body proportions. Among those with abnormal body proportions, some have arms and legs that are very short while the torso is more nearly normal size. Achondroplasia is the most common growth defect of this type. What Is Achondroplasia?

17. ACHONDROPLASIA Tips for printing. achondroplasia Harold Chen, MD and Wladimir Wertelecki,MD Skeletal features are usually similar but milder to achondroplasia. http://ibis-birthdefects.org/start/achondro.htm

Tips for printing ACHONDROPLASIA Harold Chen, M.D. and Wladimir Wertelecki, M.D. About I.B.I.S. Home Search Topics Search all contents ... "In the News" Messages... Questions/comments Report Dead Links S.O.S. - Exchange Join I.B.I.S. ... Etchings CONTENTS Includes Excludes Major Criteria Symptoms Signs Associated Findings Imaging Signs MRI Radiologic Features Laboratory Findings Histology Molecular genetics Prenatal Diagnosis Ultrasonography Molecular testing Differential Diagnosis Hypochondroplasia Hypochondroplasia-achondroplasia compound heterozygote Thanatophoric dysplasia (TD) Pseudoachondroplasia Etiology/Causes Heterozygotes/Carriers/Parents/Family Pathogenesis/Mechanisms Age of Detectability/ Childhood/Adulthood/Fertility/Aging Complications/Risks Sex Ratio Occurrence/incidence/Prevalence Gene/Chromosome Management/Treatment Prognosis Prevention References Illustrated Overviews Achondroplasia Dwarf Midget Other Sites Includes: Chondrodystrophia fetalis Chondrodysplasia fetalis Chondrodystrophic dwarfism Heterozygous achondroplasia Homozygous achondroplasia

18. Achondroplasia Tips for printing. achondroplasia Topics include Title and Acondroplasia SpecialResources SOS Ask experts or consultants for information achondroplasia. http://ibis-birthdefects.org/start/achfact.htm

Tips for printing Achondroplasia About I.B.I.S. Home Search Topics Search all contents ... "In the News" Messages... Questions/comments Report Dead Links S.O.S. - Exchange Join I.B.I.S. ... Etchings Please Explore: Support Groups Professional Associations Key Information Sources Topics include Title and Acondroplasia Special Resources Achondroplasia A Selection of Internet Sites [*] Outstanding [P] Professional [S] Support Group [French] [Spanish] Achondroplasia Fact Sheet Illustrated Overview Short Stature Dwarfism ... Midgets [*] [P] OMIM Comprehensive Review for Specialists. [*] [P] Fibroblast growth factor receptor 3; FGFR3 by OMIM Gene Map Locus: 4p16.3 .0011 Crouzon Syndrome with Acanthosis Nigricans [FGFR3] : In a mother and daughter with a syndrome of Crouzon craniosynostosis in association with acanthosis nigricans and in 2 sporadic cases with this combination, Meyers et al. (1995) observed a G-to-A transition at nucleotide 1172 of FGFR3, resulting in an ala391-to-glu (GCG-to-GAG) mutation in the transmembrane domain ... Hypochondroplasia : ... 18 Taiwanese patients with hypochondroplasia, ... a C-to-A transversion at nucleotide 1659 (in their numbering system) of the FGFR3 gene in 6 patients, and a C-to-G transversion of the same nucleotide in 4 patients ... Fofanova et al. (1998) studied 16 patients with hypochondroplasia, ... In 9 patients (56.3%), the heterozygous N540K mutation was detected ...

19. MEDLINEplus Medical Encyclopedia: Achondroplasia achondroplasia. of dwarfism. Causes, incidence, and risk factors. achondroplasiais an inherited disorder of bone growth. It is one http://www.nlm.nih.gov/medlineplus/ency/article/001577.htm

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 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%. Symptoms Typical appearance of achondroplastic dwarfism is apparent at birth: short stature short limbs

20. Virtual Children's Hospital: Paediapaedia: Achondroplasia Paediapaedia Musculoskeletal Diseases achondroplasia. All rights reserved. http//www.vh.org/pediatric/provider/radiology/PAP/MSDiseases/achondroplasia.html. http://www.vh.org/pediatric/provider/radiology/PAP/MSDiseases/Achondroplasia.htm

Paediapaedia: Musculoskeletal Diseases Achondroplasia Michael P. D'Alessandro, M.D. Peer Review Status: Internally Peer Reviewed Clinical Presentation: Short stature. Has mild hypotonia and slow motor development but eventually has normal intelligence and motor function. Narrowing of the foramen magnum can cause hydrocephalus, and cord compression is another possible symptom. Most common short limbed dwarf. Etiology/Pathophysiology: Disorder of tubular bone growth. Autosomal dominant. Pathology: Not applicable Imaging Findings: Rhizomelic limb shortening is seen. On plain film see short tubular bones with normal width and shortening of humerus compared to radius and ulna with flared metaphyses. Pelvis has a "champagne glass" appearance with square iliacs bones, broad flat acetabular roofs, and a small sciatic notch. Decreased distance between pedicles in lumbar spine is noted as you descend through it. The pedicles are shortened. Vertebral bodies are normal height but have concave posterior border. There is a large calvarium with prominent frontoparietal and occipital regions with a short skull base and mid face hypoplasia. DDX: Hypochondroplasia (milder) Thanatophoric dwarf (more severe in newborn) Pseudoachondroplasia (skull is normal and epiphyseal ossification is severely disturbed) References: See References Chapter.

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