21. Achondroplasia a CHORUS notecard document about achondroplasia http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

22. Achondroplasia This is a technical description of the dwarfing conditions known as 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.

23. The Department Of Orthopaedic Surgery What is achondroplasia? Dyplasia means abnormal development. achondroplasia refers to the abnormal development of cartilage ( chondro ). http://www.hopkinsmedicine.org/orthopedicsurgery/achondroplasia.html

Johns Hopkins Web Search 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.

24. Musculoskeletal Diseases achondroplasia achondroplasia - Acquired Hyperostosis Syndrome achondroplasia - some useful links V Loeffler - The Teddybear Foundation 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 , an illustrated Musculoskeletal Glossary , and a set of educational cases (radiol.) - U of Washington (US) Ortho Supersite OrthoLinx WorldOrtho including A Simple Guide to Orthopaedics [RL Huckstep] - Nepean Hosp., Sydney (AU) A collection of Case discussions at OrthoGate.org

25. MedlinePlus Medical Encyclopedia: Achondroplasia achondroplasia is a disorder of bone growth that causes the most common type This means that two parents without achondroplasia may give birth to a baby http://www.nlm.nih.gov/medlineplus/ency/article/001577.htm

@import url(/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 a 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 may be inherited as an autosomal dominant trait, which means that if a child gets the defective gene from one parent, the child will have the disorder. However, approximately 80% of cases appear as spontaneous mutations. This means that two parents 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 (upper arm and thigh) Skeletal (limb) abnormalities Abnormal hand appearance (trident hand) with persistent space between the long and ring fingers

26. MedlinePlus: Dwarfism Specific Conditions; achondroplasia (March of Dimes Birth Defects Foundation) Also available in Spanish. Clinical Trials; ClinicalTrials.gov Dwarfism http://www.nlm.nih.gov/medlineplus/dwarfism.html

@import url(http://www.nlm.nih.gov/medlineplus/images/advanced.css); Skip navigation Other health topics: A B C D ... List of All Topics Dwarfism Contents of this page: Overviews Genetics Dictionaries/Glossaries Organizations ... Information from the Medical Encyclopedia Search MEDLINE/PubMed for recent research articles on Dwarfism You may also be interested in these MedlinePlus related pages: Growth Disorders Bones, Joints and Muscles Endocrine System (Hormones) Genetics/Birth Defects Overviews Dwarfism Resources: Frequently Asked Questions (Little People of America) Specific Conditions Achondroplasia (March of Dimes Birth Defects Foundation) Also available in: Spanish Clinical Trials ClinicalTrials.gov: Dwarfism (National Institutes of Health) Genetics Genetics Home Reference: Achondrogenesis, type 1B (National Library of Medicine) Genetics Home Reference: Achondrogenesis, type 2 (National Library of Medicine) Genetics Home Reference: Achondroplasia (National Library of Medicine) Genetics Home Reference: Atelosteogenesis, type 2 (National Library of Medicine) Genetics Home Reference: Collagenopathy, types II and XI

27. The Teddy Bear Foundation For Achondroplasia The Teddy Bear Foundation For achondroplasia. achondroplasia. American Association for Pediatric Ophthalmology and Strabismus(AAPOS) Babynet http://www.teddybearfoundation.org/links.htm

28. Achondroplasia achondroplasia is an inherited disorder of bone development that results in shortlimb achondroplasia is the most common form of short-limb dwarfism, http://www.wellcome.ac.uk/en/genome/genesandbody/hg06f016.html

Achondroplasia 2/8/04. By Richard Twyman Achondroplasia is an inherited disorder of bone development that results in short-limb dwarfism. Overview Achondroplasia is the most common form of short-limb dwarfism, a developmental disorder in which bone tissue does not develop properly in the long bones of the arms and legs. The condition affects about 1 in 25 000 individuals of all ethnic groups. Achondroplasia cannot be cured, but the symptoms can be treated with surgery. Genetics Achondroplasia is a single gene disorder caused by certain mutations in the FGFR3 gene on chromosome 4. The disease is described as recessive because both copies of the gene must be mutated before symptoms develop. See the gene in the interactive chromosome browser [requires Flash] The FGFR3 gene encodes the fibroblast growth factor receptor number 3. Growth factors are proteins that control cell growth and behaviour, but in order to work they must bind to receptors on the surface of responding cells. When the receptors are absent or not working properly, the growth factors cannot carry out their normal functions. The FGFR3 protein is concentrated in the cartilage and the central nervous system, so mutations in the FGFR3 gene predominantly affect these parts of the body.

29. Achondroplasia achondroplasia. achondroplasia.jpg (18634 bytes) view 18 KB version view 9 KB version. This girl has short limbs relative to trunk length. 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

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

CHORUS Collaborative Hypertext of Radiology Musculoskeletal system About CHORUS Search Feedback 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 Related CHORUS documents: progeria (Hutchinson-Gilford) syndrome Hurler's syndrome Marfan syndrome bullet shaped vertebrae ... posterior vertebral scalloping Search for related articles: AJR American Journal of Roentgenology PubMed : index to biomedical literature ... Medical College of Wisconsin

31. Achondroplasia Heterozygous achondroplasia is the prototypical and most common rhizomelic Patients with achondroplasia are of normal intelligence but may have delay in http://www.stevensorenson.com/residents6/achondroplasia.htm

Home Up Neurofibromatosis Pyknodysostosis ... Ollier disease [ Achondroplasia ] Diastrophic dwarfism Chondrodysplasia punctata Thanatophoric dwarfism Asphyxiating thoracic dysplasia ... Dyschondrosteoses Heterozygous achondroplasia is the prototypical and most common rhizomelic dwarfism syndrome. Although the disease is autosomal dominant in transmission, approximately 80 - 90 % of cases are sporadic, reflecting mutations. The genetic defect lies at the fibroblast growth factor-3 gene, but in a different location than thanatophoric dwarfism. This results in defective endochondral bone formation with resultant shortening of tubular bones. The shaft caliber is less affected because periosteal intramembraneous bone formation is not affected. The incidence of the disease is 1 in approximately 30,000 to 60,000 births. Females are affected more than males. The offspring of two achondroplasts may produce a hereditary form of the disease known as homozygous achondroplasia. This is a lethal form of the disease in the neonatal period. Patients with achondroplasia are of normal intelligence but may have delay in reaching pediatric milestones. Three percent have hydrocephalus. In addition, skull abnormalities may lead to a small foramen magnum, leading to spinal cord compression. Hearing problems may result from multiple ear infections in childhood due to skull abnormalities.

32. Achondroplasia Detailed information on achondroplasia, including causes, symptoms, diagnosis, and treatment. http://www.healthsystem.virginia.edu/uvahealth/peds_diabetes/achondro.cfm

[ Skip Navigation ] Health System Home For Health Answers Healthcare Professionals ... Advanced Search Health System Search Search for Information People UVa Home Health System News Health System Events (all) Health System Publications ... Making a Gift Topics Adolescent Medicine Allergy/Asthma/Immunology Blood Disorders Burns Cancer Common Injuries/Poison Tips Craniofacial Anomalies Dermatology Diabetes/Endo/Metabolism Eye Care Genitourinary/Kidney High-Risk Newborn High-Risk Pregnancy Infectious Diseases Medical Genetics Mental Health Nervous System Disorders Normal Newborns Oral Health Orthopaedics Pediatric Surgery Respiratory Disorders Terminal Illness in Children Transplantation UVa Health Topics A to Z FIND A DOCTOR Pediatric Endocrinology Pediatric Neurosurgery MAKE AN APPOINTMENT ... CLINICAL TRIALS Search This Site Achondroplasia What is achondroplasia? Achondroplasia is a genetic (inherited) bone disorder that occurs in one in 25,000 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?

33. Growth Disorders / Family Village Library achondroplasia From Online Mendelian Inheritance in Man (OMIM). CartilageHair Hypoplasia From Online Mendelian Inheritance in Man (OMIM) http://www.familyvillage.wisc.edu/lib_grow.htm

Growth Disorders See also Russell-Silver Syndrome Adrenal Hyperplasia McCune-Albright Syndrome and Turner Syndrome Who to Contact Where to Go to Chat with Others Learn More About It ... Search Google for "Growth Disorders" Who to Contact Human Growth Foundation (HGF) 997 Glen Cove Avenue Glen Head, N.Y. 11545 800-451-6434 (phone) 516-671-4055 (fax) E-mail: hgf1@hgfound.org Web: http://hgfound.org/ This foundation helps individuals with growth-related disorders, their families, and health care professionals through education, research, and advocacy. HGF has available reading material for growth-related disorders, there is a nominal charge for more than one of each item. It also has a list of books that may be purchased. It publishes a monthly newsletter and collects information on physicians and research that is accessible to members. Little People's Research Fund, Inc. (LPRF) 616 Old Edmondson Avenue Catonsville, MD 21228 410-747-1100 (phone) 410-747-1374 (fax) 800-232-LPRF (toll-free) Web: http://www.lprf.org/

34. Achondroplasia / Family Village Library This is an open forum support eGroup for achondroplasia. It has been established for achondroplasia Greenberg Center for Skeletal Dysplasias http://www.familyvillage.wisc.edu/lib_achondroplasia.html

Achondroplasia Who to Contact Where to Go to Chat with Others Learn More About It Web Sites ... Search Google for "Achondroplasia" Who to Contact Teddy Bear Foundation for Achondroplasia P.O. Box 148 Fanwood, NJ 07028 1-908-889-7717 (fax) E-mail: info@teddybearfoundation.org Web: http://www.teddybearfoundation.org/ MAGIC Foundation for Children's Growth 6645 W. North Ave. Oak Park, IL 60302 Fax: (708) 383-0899 E-mail: mary@magicfoundation.org Website: http://www.magicfoundation.org/ This is a national non-profit organization providing support and education regarding growth disorders in children and related adult disorders, including adult GHD. The MAGIC Foundation is dedicated to helping children whose physical growth is affected by a medical problem, by assisting families of afflicted children through local support groups, public education/awareness, newsletters, specialty divisions (such as the Growth Hormone Deficiency Division), and programs for the children (pen pals/newsletters/birthday club). MAGIC publishes a quarterly newsletter The Magic Touch that is free with membership or in case of financial need membership is free. The children produce a newsletter of their own called

35. ► Achondroplasia A medical encycopedia article on the topic achondroplasia. http://www.umm.edu/ency/article/001577.htm

var MenuLinkedBy='AllWebMenus [2]', awmBN='530'; awmAltUrl=''; Disease Nutrition Surgery Symptoms Injury ... Z Maryland Medical Center Programs Department of Orthopaedics UM Hospital for Children Home Medical Reference ... Encyclopedia (English) Toggle English Spanish Achondroplasia Overview Symptoms Treatment 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%. Review Date: 5/26/2001 Reviewed By: David M. Scher, M.D., Department of Orthopaedic Surgery, NYU-Hospital for Joint Diseases, New York, NY. Review provided by VeriMed Healthcare Network.

36. ► Achondroplasia A medical encycopedia article on the topic achondroplasia. http://www.umm.edu/ency/article/001577trt.htm

var MenuLinkedBy='AllWebMenus [2]', awmBN='530'; awmAltUrl=''; Disease Nutrition Surgery Symptoms Injury ... Z Maryland Medical Center Programs Department of Orthopaedics UM Hospital for Children Home Medical Reference ... Encyclopedia (English) Toggle English Spanish Achondroplasia Overview Symptoms Treatment Prevention Treatment: There is no specific treatment for achondroplasia. Associated orthopedic abnormalities such as club feet should be corrected. Expectations (prognosis): People with achondroplasia seldom reach five feet in height. Mentality is normal. Infants who are homozygous for achondroplasia (both parents are achondroplastic and each has contributed an affected gene ) seldom live beyond a few months. Complications: hydrocephalus club feet Calling your health care provider: Call for an appointment with your health care provider if you are planning to have children and there is a family history of achondroplasia. Review Date: 5/26/2001 Reviewed By: David M. Scher, M.D., Department of Orthopaedic Surgery, NYU-Hospital for Joint Diseases, New York, NY. Review provided by VeriMed Healthcare Network.

37. Uhrad.com - Pediatric Imaging Teaching Files Discussion achondroplasia is the most common nonlethal skeletal dysplasia with a Clinical complications of achondroplasia include hydrocephalus and 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.

38. Uhrad.com - Pediatric Imaging Teaching Files The mode of inheritance for achondroplasia is autosomal dominant, and this disorder The clinical manifestations of achondroplasia include shortlimbed, http://www.uhrad.com/pedsarc/peds050.htm

uhrad.com - Pediatric Imaging Teaching Files Case Fifty - Achondroplasia Click on Images for Enlarged View Clinical History: Short stature. Findings: On the AP pelvis view, there is a narrowing of the interpediculate distance in the lumbar spine. There are squared iliac wings, bilateral narrowed sacrosciatic notches, bilaterally flattened acetabulate, and shortened proximal femoral metaphyses. On the lateral thoracolumbar spine view, there are bullet shaped vertebral bodies in the lumbar spine. There is narrowing of the spinal canal, posterior scalloping of the vertebral bodies in the lumbar spine, and widened intervertebral disc spaces. There is slight kyphosis in the lumbar spine. Diagnosis: Achondroplasia. Discussion: Of the three types of short-limbed dwarfism (rhizomelia, mesomelia, acromelia), achondroplasia causes rhizomelic dwarfism. In rhizomelic dwarfism, the proximal segments of the extremities are predominantly affected. This includes the humeri and femora. The mode of inheritance for achondroplasia is autosomal dominant, and this disorder is the most common nonlethal skeletal dysplasia. It occurs in approximately 1 per 26,000 live births. The clinical manifestations of achondroplasia include short-limbed, short-trunk dwarfism, large head with prominent forehead, trident hands, gibbus in the thoracolumbar region in infants, and normal mentality.

39. Achondroplasia 4-1521 www.sbu.ac.uk/~dirt/museum/4581521.html achondroplasia but Zach does not. 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.

40. OMIM - ACHONDROPLASIA; ACH http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=100800

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