21. ORPHANET® : Enchondromatosis ORPHANET. Orphanet database access. enchondromatosis. Direct access to data Summary Maffucci s syndrome is characterized by the presence http://www.orpha.net/static/GB/enchondromatosis.html

Orphanet database access Enchondromatosis Direct access to data Summary Maffucci's syndrome is characterized by the presence of multiple enchondromas and cutaneous hemangiomas. Intracranial chondrosarcomas may be associated with this syndrome. Immunohistochemical studies are necessary to differentiate chondrosarcomas from chordomas. Its etiology is still unclear. Maffucci's syndrome is a dysembryoplasia of the mesoderm, explaining the dual involvement of cartilage and vascular tissue. The risk of malignant degeneration or associated tumors is probably high in this uncommon disease, suggesting that there is an additional oncogenic factor. * Author: S. Aymé, M.D. (June 1999) * Clinical signs Asymmetry of the body Autosomal dominant inheritance Bowed diaphysis Haemangioma-cavernous Restricted joint mobility Visceral angiomatosis Mutiple fractures Neoplasia/cancer Decreased skin pigmentation irregular Lymphoedema/oedema Update : 01/06/2004 Orphanet database access

22. ORPHANET - Rare Diseases - Orphan Drugs Printing version, DISEASE enchondromatosis, Synonym(s) Maffucci syndrome Ollier disease, ICD Q78.4, Maffucci s syndrome is characterized http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=296

23. Ollier Disease Malignant progression in multiple enchondromatosis (Ollier’s disease) an autopsybased molecular genetic study. Hum Pathol. 2000;311299-303. http://www.bchealthguide.org/kbase/nord/nord337.htm

document.write(''); var hwPrint=1; var hwDocHWID="nord337"; var hwDocTitle="Ollier Disease"; var hwRank="1"; var hwSectionHWID="nord337"; var hwSectionTitle=""; var hwSource="cn6.0"; var hwProdCfgSerNo="wsh_html_031_s"; var hwDocType="NORD"; National Organization for Rare Disorders, Inc. Ollier Disease Important It is possible that the main title of the report is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. Synonyms Multiple Enchondromatosis Multiple Cartilaginous Enchondroses Dyschondroplasia Enchondromatosis Disorder Subdivisions None Related Disorders List Information on the following diseases can be found in the Related Disorders section of this report: Maffucci syndrome Multiple exostoses Proteus syndrome General Discussion Ollier disease is a rare skeletal disorder characterized by abnormal bone development (skeletal dysplasia). While this disorder may be present at birth (congenital); it may not become apparent until early childhood when symptoms, such as deformities or improper limb growth, are more obvious. Ollier disease primarily affects the long bones and cartilage of the joints of the arms and legs, specifically the area where the shaft and head of a long bone meet (metaphyses). The pelvis is often involved; and even more rarely, the ribs, breast bone (sternum), and/or skull may also be affected. Ollier disease manifests as greater than normal growth of the cartilage in the long bones of the legs and arms so that growth is abnormal and the outer layer (cortical bone) of the bone becomes thin and more fragile. These masses of cartilage are benign (non-cancerous) tumors known as enchondromas. Enchondromas may occur at anytime. After puberty these growths stabilize as cartilage is replaced by bone. In rare cases, the enchondromas may undergo malignant changes (e.g., chondrosarcomas). The exact cause of Ollier disease is not known, although in some cases it may be inherited as an autosomal dominant genetic trait.

24. Maffucci Syndrome enchondromatosis WITH HEMANGIOMAS (MAFFUCCI S SYNDROME) E. Gutman, et al.; South Med J (April 1978, issue 71(4)). Pp. 466467. http://www.bchealthguide.org/kbase/nord/nord433.htm

document.write(''); var hwPrint=1; var hwDocHWID="nord433"; var hwDocTitle="Maffucci Syndrome"; var hwRank="1"; var hwSectionHWID="nord433"; var hwSectionTitle=""; var hwSource="cn6.0"; var hwProdCfgSerNo="wsh_html_031_s"; var hwDocType="NORD"; National Organization for Rare Disorders, Inc. Maffucci Syndrome Important It is possible that the main title of the report is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. Synonyms Dyschondrodysplasia with Hemangiomas Enchondromatosis with Multiple Cavernous Hemangiomas Hemangiomatosis Chondrodystrophica Kast Syndrome Multiple Angiomas and Endochondromas Disorder Subdivisions None Related Disorders List Information on the following diseases can be found in the Related Disorders section of this report: Ollier Disease Klippel-Trenaunay-Weber Syndrome Blue Rubber Bleb Nevus Syndrome General Discussion Maffucci Syndrome is a rare genetic disorder characterized by benign overgrowths of cartilage (enchondromas), skeletal deformities, and dark red irregularly shaped patches of skin (hemangiomas). Enchondromas are most often found in certain bones (phalanges) of the hands and feet. Skeletal malformations may include legs that are disproportionate in length and/or abnormal side-to-side curvature of the spine (scoliosis). In many cases, bones may tend to fracture easily. In most cases, hemangiomas appear at birth or during early childhood and may be progressive. Maffucci Syndrome is inherited as an autosomal dominant genetic trait.

25. OLLIER ENCHONDROMATOSIS Features Listed For OLLIER enchondromatosis. McKusick 166000. Enchondromata; Lytic lesions of bone; Macrodactyly; Multiple fractures; Ovarian cysts/tumours; http://www.hgmp.mrc.ac.uk/dhmhd-bin/hum-look-up?1255

26. ENCHONDROMATOSIS, GENERALISED Features Listed For enchondromatosis, GENERALISED. McKusick 166000. Chromosome(s) http://www.hgmp.mrc.ac.uk/dhmhd-bin/hum-look-up?540

27. Cartilage Producing Bone Tumours Patients with Ollier s disease (multiple enchondromatosis) or Maffucci s syndrome (multiple enchondromas and hemangiomas) are at much higher risk of http://www.orthoteers.co.uk/Nrujp~ij33lm/Orthtumbone2.htm

Bone Tumour Index Go Back to SYLLABUS Find in this Page: enter a search term and hit 'enter' (may take a few seconds) Search the Orthoteer Site: Cartilage producing Bone Tumours Osteochondroma Enchondroma Chondroblastoma Chondromyxoid Fibroma ... Chondrosarcoma text and images courtesy of Henry DeGroot III, M.D. found on www.bonetumor.org Osteochondroma Cartilage capped bony projection / exostosis Commonest benign tumour of bone Developmental abnormality of the metaphyseal area of any bone formed in cartilage (endochondral ossification) Incidence Accounts for 45% of benign bone tumours 12% of all bone tumours most become evident under 20 years May be solitary or multiple (diaphyseal aclasis) Any bone developing by endochondral ossification may be involved Diaphysial Aclasis Autosomal dominant Disordered endochondral growth Multiple osteochondromas and disordered metaphyseal growth Short stature and bowing of limbs Treat individual lesions as necessary and observe for malignant change Malignancy Risk = ~ 20% overall or 0.2% per lesion Trevor's Disease: Osteochondroma on epiphyseal side of the growth plate Clinically Present with lump or interference of tendon function Excise if troublesome in second decade 50% are distal femur, upper tibia or proximal humerus

28. Dysplasias Osteogenesis imperfecta; Marfan s; enchondromatosis (Ollier); Neurofibromatosis; Osteopetrosis; enchondromatosis. (excess of hypertrophic cartilage). http://www.orthoteers.co.uk/Nrujp~ij33lm/Orthdysplasias.htm

Go Back to SYLLABUS Find in this Page: enter a search term and hit 'enter' (may take a few seconds) Search the Orthoteer Site: SKELETAL DYSPLASIAS Definitions Sir Thomas Fairbank of Edinburgh, Scotland, pioneered the work on skeletal dysplasias in his 1951 book, An Atlas of General Affections of the Skeleton. Dysplasia comes from Latin roots dys and plasia , meaning "bad growth". Therefore, if a patient has bones that are funny-shaped in some way, they are probably dysplastic. Dysplasia is caused by intrinsic bone abnormality. It is the preferred term for dwarfism is used when the developmental changes to the skeleton are generalised. Dysostosis is a deformity or maldevelopment of a single bone or body segment. OR a term used when there are underlying mesodermal or ectodermal abnormalities Dystrophy: alludes to deformities caused by metabolic or nutritional problems Dwarfism is pathological diminution of stature. Is broadly divided into proportionate (midget) or disproportionate (short limb or short trunk) varieties The short limb group can be further subdivided according to the site of maximal shortening: rhizomelic - in the proximal portion of the limb mesonelic - in the middle portion acromelic - in the distal portion Disproportionate Achondroplasia Metaphyseal chondrodysplasia Case Study Chondroectodermal dysplasia (Chondrodysplasia punctata) Short trunk Kneist syndrome Spondyloepiphyseal dysplasia Proportionate Mucopolysaccharidoses Diastrophic dysplasia Cliedocranial dysostosis PNEUMONIC for Common Dysplasias:

29. Ollier Disease - Quest Diagnostics Patient Health Library Synonyms. Multiple enchondromatosis; Multiple Cartilaginous Enchondroses; Dyschondroplasia; enchondromatosis. Disorder Subdivisions. None. General Discussion. http://www.questdiagnostics.com/kbase/nord/nord337.htm

document.write(''); var hwPrint=1; var hwDocHWID="nord337"; var hwDocTitle="Ollier Disease"; var hwRank="1"; var hwSectionHWID="nord337"; var hwSectionTitle=""; var hwSource="us6.0"; var hwProdCfgSerNo="wsh_html_059_c"; var hwDocType="NORD"; National Organization for Rare Disorders, Inc. Ollier Disease Important It is possible that the main title of the report is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. Synonyms Multiple Enchondromatosis Multiple Cartilaginous Enchondroses Dyschondroplasia Enchondromatosis Disorder Subdivisions None General Discussion Ollier disease is a rare skeletal disorder characterized by abnormal bone development (skeletal dysplasia). While this disorder may be present at birth (congenital); it may not become apparent until early childhood when symptoms, such as deformities or improper limb growth, are more obvious. Ollier disease primarily affects the long bones and cartilage of the joints of the arms and legs, specifically the area where the shaft and head of a long bone meet (metaphyses). The pelvis is often involved; and even more rarely, the ribs, breast bone (sternum), and/or skull may also be affected. Ollier disease manifests as greater than normal growth of the cartilage in the long bones of the legs and arms so that growth is abnormal and the outer layer (cortical bone) of the bone becomes thin and more fragile. These masses of cartilage are benign (non-cancerous) tumors known as enchondromas. Enchondromas may occur at anytime. After puberty these growths stabilize as cartilage is replaced by bone. In rare cases, the enchondromas may undergo malignant changes (e.g., chondrosarcomas). The exact cause of Ollier disease is not known, although in some cases it may be inherited as an autosomal dominant genetic trait.

30. Maffucci Syndrome - Quest Diagnostics Patient Health Library subdivision(s) covered by this report. Synonyms. Dyschondrodysplasia with Hemangiomas; enchondromatosis with Multiple Cavernous Hemangiomas; http://www.questdiagnostics.com/kbase/nord/nord433.htm

document.write(''); var hwPrint=1; var hwDocHWID="nord433"; var hwDocTitle="Maffucci Syndrome"; var hwRank="1"; var hwSectionHWID="nord433"; var hwSectionTitle=""; var hwSource="us6.0"; var hwProdCfgSerNo="wsh_html_059_c"; var hwDocType="NORD"; National Organization for Rare Disorders, Inc. Maffucci Syndrome Important It is possible that the main title of the report is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. Synonyms Dyschondrodysplasia with Hemangiomas Enchondromatosis with Multiple Cavernous Hemangiomas Hemangiomatosis Chondrodystrophica Kast Syndrome Multiple Angiomas and Endochondromas Disorder Subdivisions None General Discussion Maffucci Syndrome is a rare genetic disorder characterized by benign overgrowths of cartilage (enchondromas), skeletal deformities, and dark red irregularly shaped patches of skin (hemangiomas). Enchondromas are most often found in certain bones (phalanges) of the hands and feet. Skeletal malformations may include legs that are disproportionate in length and/or abnormal side-to-side curvature of the spine (scoliosis). In many cases, bones may tend to fracture easily. In most cases, hemangiomas appear at birth or during early childhood and may be progressive. Maffucci Syndrome is inherited as an autosomal dominant genetic trait. Resources Ollier/Maffucci Self-Help Group C/O Hermann Schmid 74 Aitchison Rd Binghamton, NY 13905

31. Maffucci Syndrome,Dyschondrodysplasia With Hemangiomas,Enchondromatosis With Mul Maffucci Syndrome,Dyschondrodysplasia with Hemangiomas,enchondromatosis with Multiple Cavernous Hemangiomas,Hemangiomatosis Chondrodystrophica,Kast Syndrome http://www.icomm.ca/geneinfo/maffuci.htm

Maffucci Syndrome,Dyschondrodysplasia with Hemangiomas,Enchondromatosis with Multiple Cavernous Hemangiomas,Hemangiomatosis Chondrodystrophica,Kast Syndrome,Multiple Angiomas and Endochondromas,Maffucci Syndrome,Dyschondrodysplasia with Hemangiomas,Enchondromatosis with Multiple Cavernous Hemangiomas,Hemangiomatosis Chondrodystrophica,Kast Syndrome,Multiple Angiomas and Endochondromas For Information on Workshops and Seminars for Special Needs Children click here The GAPS INDEX to Information on the Internet about Genetic Disorders and Birth Defects Genetic Information and Patient Services, Inc. (GAPS) HOME DISORDERS GLOSSARY Maffuci Syndrome also known as: Dyschondrodysplasia with Hemangiomas Enchondromatosis with Multiple Cavernous Hemangiomas Hemangiomatosis Chondrodystrophica Multiple Angiomas and Endochondromas (as defined by the National Organization for Rare Disorders Maffucci Syndrome is a rare genetic disorder characterized by benign overgrowths of cartilage (enchondromas), skeletal deformities, and dark red irregularly shaped patches of skin (hemangiomas). Enchondromas are most often found in certain bones (phalanges) of the hands and feet.

32. AAMED: American Association Of Multiple Enchondroma Diseases - Living With Multi General Information “Living with Multiple enchondromatosis. Most read story about “Living with Multiple enchondromatosis. Article Rating. http://www.aamed.net/modules.php?name=News&file=article&sid=1

33. AAMED: American Association Of Multiple Enchondroma Diseases - Enchondromatosis Clinical Information enchondromatosis An explanation. Six types of enchondromatosis have been described, of which three are more common. http://www.aamed.net/modules.php?name=News&file=article&sid=17

34. Enchondromatosis Images Videos enchondromatosis. Printable version. osteochondromatosis, dyschondroplasia, Ollier s disease. Synopsis cartilage http://www.humpath.com/article.php3?id_article=351

35. Wheeless' Textbook Of Orthopaedics lesions or metaphyseal lesions which do not cross the growth plate, at least, not until growth plate closure; in some cases enchondromatosis will affect http://www.wheelessonline.com/o6/93.htm

Main Menu Home Page Multiple Enchodromatosis (Ollier's Disease) - Discussion: - originally was described by Ollier in late 1800's; - characterized by multiple enchondroma lesions primarily located w/ in the metaphyseal regions of tubular bones; - usually diagnosed in childhood; - pts w/ Ollier's dz have increased risk of a secondary chondrosarcoma developing later in life; - risk is about 25% by age 40 yrs; - Clinical Findings: - most pts have bilateral involvement, w/ predominance on one side; - enchondromas most frequently involve the short tubular bones of hands - Radiographs: - in most cases, there will be diaphyseal lesions or metaphyseal lesions which do not cross the growth plate, at least, not until growth plate closure; - in some cases enchondromatosis will affect patients in the metaphyseal and epiphyseal regions; - when enchondromas cross the growth plate, severe limb length deformities and angular deformities will develop; The malignant potential of enchondromatosis Ollier's Disease. An assessment of angular deformity, shortening, and

36. Entrez PubMed Generalized enchondromatosis in a boy with only platyspondyly in the father. Halal F, Azouz EM. Division of Medical Genetics, Montreal http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?holding=npg&cmd=Retrieve&db=PubMed

37. Entrez PubMed Click here to read A mutant PTH/PTHrP type I receptor in enchondromatosis. Hopyan S, Gokgoz N, Poon R, Gensure RC, Yu C, Cole WG http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?holding=npg&cmd=Retrieve&db=PubMed

38. Nature Publishing Group 3 pp 306 310 A mutant PTH/PTHrP type I receptor in enchondromatosis Schwartz, HS et al. The malignant potential of enchondromatosis. J. Bone Joint Surg. Am. http://www.nature.com/cgi-taf/DynaPage.taf?file=/ng/journal/v30/n3/full/ng844.ht

39. Disease Directory : Ollier Disease,Multiple Enchondromatosis,Multiple Cartilagin Diseases Rare Disorders Ollier Disease Ollier Disease,Multiple enchondromatosis,Multiple Cartilaginous Directory Listing. http://www.diseasedirectory.net/detailed/27627.aspx

Wednesday, June 02, 2004 Rare Disorders Agnosia Aicardi Syndrome Alstrom Syndrome ... Ollier Disease : Ollier Disease,Multiple Enchondromatosis,Multiple Cartilaginous ... Directory Listing Title: Ollier Disease,Multiple Enchondromatosis,Multiple Cartilaginous ... Description: Ollier Disease,Multiple Enchondromatosis,Multiple Cartilaginous Enchondroses,Ollier Osteochondromatosis,Unilateral Chondromatosis. Ollier's Disease Date Added: 2/17/2004 5:34:01 PM URL: http://www.icomm.ca/geneinfo/ollier.htm

40. Disease Directory : Virtual Children's Hospital: Enchondromatosis Diseases Rare Disorders Ollier Disease Virtual Children s Hospital enchondromatosis. Directory Listing. Title Virtual Children s http://www.diseasedirectory.net/detailed/11255.aspx

Wednesday, June 02, 2004 Rare Disorders Agnosia Aicardi Syndrome Alstrom Syndrome ... Ollier Disease : Virtual Children's Hospital: Enchondromatosis Directory Listing Title: Virtual Children's Hospital: Enchondromatosis Description: Clinical presentation, etiology and imaging findings. Date Added: 2/4/2004 1:29:10 PM URL: http://www.vh.org/Providers/TeachingFiles/PAP/MSDiseases/Enchondromatosis.html

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