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         Craniofrontonasal Dysplasia:     more detail

41. Definitions Of Genetic Disorders-C.
Craniofacial Dysostosis (Crouzon's) http//www.stepstn.com/nord/rdb_sum/419.htm.craniofrontonasal dysplasia http//www.stepstn.com/nord/rdb_sum/1049.htm.
http://www.icomm.ca/geneinfo/def-c.htm
The GAPS INDEX
to Information on the Internet about Genetic Disorders and Birth Defects

Genetic Information and Patient Services, Inc. (GAPS)
HOME
DISORDERS GLOSSARY
Definitions of Genetic Disorders beginning with the letter C Click on the link next to the disorder to view its definition.
C Syndrome csyn.htm
C1 Esterase Inhibitor Dysfunction Type II Angioedema herang.htm
C1-INH herang.htm
C1 Esterase Inhibitor Deficiency Type I Angioedema herang.htm
herang.htm

Cacchi-Ricci Disease msd.htm CAD CAD.htm CADASIL cadasil.htm CAH cah.htm CAH ambgen.htm Calcaneal Valgus clubfoot.htm Calcaneovalgus clubfoot.htm Calcium Pyrophosphate Dihydrate Deposits cppd.htm Callosal Agenesis and Ocular Abnormalities aicardi.htm Calves-Hypertrophy of Spinal Muscular Atrophy kennedy.htm Campomelic Dysplasia camptdys.htm Campomelic Dwarfism camptdys.htm Campomelic Syndrome camptdys.htm Camptodactyly-Cleft Palate-Clubfoot gordon.htm Camptodactyly-Limited Jaw Excursion tpcd.htm

42. Genetic Disorders Information Sites
Syndrome; Cowden Syndrome; craniofrontonasal dysplasia; Cri du Chat Syndrome@;CriglerNajjar Syndrome; Cystic Fibrosis; Cystinosis@; DiGeorge
http://www.medicalorg.com/ConditionsandDiseases/GeneticDisorders/
MEDICALorg.com Search SPYorg.com
(Not sure of spelling? Use first letters and * such as abc* or abcd* or abcde*) Match:.. All Any
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Search Words: Top Health Conditions and Diseases : Genetic Disorders

See Also:

43. Browsing Health Conditions And Diseases Rare Disorders Category
Dysplasia Cockayne Syndrome Coffin Lowry Syndrome Cornelia De Lange Syndrome CorticobasalDegeneration Costello Syndrome craniofrontonasal dysplasia Cri du
http://www.uksprite.com/search/search/Health/Conditions_and_Diseases/Rare_Disord
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Categories: Aarskog Syndrome
Aase Syndrome

Abetalipoproteinemia

Ablepharon-Macrostomia Syndrome
...
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Related Categories:
Health: Conditions and Diseases: Genetic Disorders

National Organization for Rare Disorders, Inc.
Information about NORD, its programs, special events and the variety of services offered. Includes a rare disease, organization and orphan drug database. Diseases are listed alphabetically for easy searching. http://www.rarediseases.org/

44. Browsing Health Conditions And Diseases Genetic Disorders Category
Syndrome Coffin Lowry Syndrome Congenital Pain Insensitivity Cornelia De Lange SyndromeCostello Syndrome Cowden Syndrome craniofrontonasal dysplasia Cri du
http://www.uksprite.com/search/search/Health/Conditions_and_Diseases/Genetic_Dis
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Browsing: Health Conditions and Diseases Genetic Disorders Top Health Conditions and Diseases Genetic Disorders
Categories: Aarskog Syndrome
Aase Syndrome

Ablepharon-Macrostomia Syndrome

Acoustic Neuroma
...
Zellweger Syndrome

Related Categories:
Health: Conditions and Diseases: Rare Disorders

Science: Biology: Genetics: Eukaryotic: Animal: Mammal: Human
Gene Clinics Medical genetics knowledge base. NIH funded, expert-authored descriptions of inherited disorders. Covers genetic testing in diagnosis and management and genetic counseling of patients. http://www.geneclinics.org

45. Andrew Wilkie's Laboratory
Apart from the disorders mentioned above, others currently under investigation includecraniofrontonasal dysplasia, otopalatodigital syndromes, MelnickNeedles
http://immwww.jr2.ox.ac.uk/groups/clingen/wilkie.html
Andrew Wilkie's Laboratory
Prof Andrew Wilkie
Tel +44 1865 222619
awilkie@molbiol.ox.ac.uk
Molecular genetics of craniofacial and limb malformation
About 1 in 40 babies is born with a serious congenital abnormality: in many cases, this is caused by alterations (mutations) in genes involved in the normal process of embryonic development. Many important malformations affect both the skull and limbs, suggesting that similar developmental processes are used to build these distinct structures. Prof Wilkie's laboratory is investigating these processes by identifying the causative mutations in patients with skull and limb malformations. Such individuals frequently require plastic surgery and the group collaborates with Mr Steven Wall and Mr Henk Giele at the Department of Plastic Surgery in Oxford in the investigation of their patients. The identification of these mutations raises the question of how they affect normal biochemical and embryological processes during early skull and limb development. We are collaborating with Prof John Heath (University of Birmingham) and Prof Gillian Morriss-Kay (University of Oxford) in the study of these problems. So far this work has demonstrated that the Apert mutations increase the binding affinity for specific fibroblast growth factors (Anderson et al 1998), has led to the identification of an unusual FGFR splicing mechanism (Twigg et al 1998) and has provided insights into the normal pathway of skull osteogenesis (Iseki et al 1997, Iseki et al 1999, Johnson et al 2000).

46. NORD Rare Disease - Medical Transcription At Medword
Corneal Dystrophy Cornelia de Lange Syndrome Corticobasal Degeneration CostelloSyndrome Cowpox craniofrontonasal dysplasia Craniometaphyseal Dysplasia
http://www.medword.com/rardisC.html
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This listing of rare diseases is provided for spelling reference. Clicking on the link will generate a new window and take you to NORD's home page, where you may search for an abstract of the disease or order a full text report of the disease. Please read the notice at the bottom of this page before using this list.
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47. Rare Diseases - Medical Transcription At Medword
Corneal Dystrophy; Cornelia de Lange Syndrome; Corticobasal Degeneration; CostelloSyndrome; Cowpox; craniofrontonasal dysplasia; Craniometaphyseal Dysplasia
http://www.medword.com/RareDiseasesListText.html
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Here is a comma-delimited list of NORD's Rare Diseases To add these words to your spell-checker: With your word-processing program or a text editor open, use your mouse to select all the words below in one group. Then, while the words are still selected, copy the words by keying <CTRL>+<C>. This copies the selected text to your computer's "clipboard." Go to a new page in your word-processing program or text editor and key <CTRL><V>. This "pastes" the words onto the page from your computer's "clipboard." Now run your spell-checking feature as you normally would and just add any words your spell-checker program does not recognize, keeping in mind the cautions outlined above. The drug and product words and word-groups listed below are separated by a semicolon. - - - - START COPYING JUST BELOW HERE - - - -
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48. DINO - Language: Englisch - Health - Conditions And Diseases - Genetic Disorders
Syndrome Dieser Link verweist auf eine HauptKategorie Cowden Syndrome Dieser Linkverweist auf eine Haupt-Kategorie craniofrontonasal dysplasia Dieser Link
http://www.dino-online.de/dino_page_e4a4e9eaa6522b570036531d97f8aff5.html
Suche Profi-Suche Katalog Video ... Produkte Suchen: Web-Seiten Video Audio Bilder Produkte Schon gewusst? Hier suchen Sie in 2 Milliarden Webseiten. Live-Suche: Was suchen andere Dino-Besucher?
You are here: DINO Language Englisch Health ... Conditions and Diseases Genetic Disorders Genetic Disorders This categorie in other languages
Danish Dutch German Italian Spanish Swedish
Categories Aarskog Syndrome
Aase Syndrome
Ablepharon-Macrostomia Syndrome
Acoustic Neuroma
Adie Syndrome
Adrenal Hyperplasia
Adrenoleukodystrophy
Aicardi Syndrome Alagille Syndrome Albinism Alkaptonuria Alopecia Areata Alpha-1 Antitrypsin Deficiency Alstrom Syndrome Angelman Syndrome Apert Syndrome Arthrogryposis Ataxia Autism Bardet-Biedl Syndrome Barth Syndrome Batten Beckwith-Wiedemann Syndrome Canavan Celiac Cerebrocostomandibular Syndrome Charcot-Marie-Tooth Disease Cleidocranial Dysplasia Cockayne Syndrome Coffin Lowry Syndrome Congenital Pain Insensitivity Cornelia De Lange Syndrome Costello Syndrome Cowden Syndrome Craniofrontonasal Dysplasia Cri du Chat Syndrome Crigler-Najjar Syndrome Cystic Fibrosis Cystinosis DiGeorge Syndrome Down Syndrome Dubowitz Syndrome Dwarfism Ectodermal Dysplasia Ehlers-Danlos Syndrome Factor V Leiden Familial Dysautonomia Familial Erythromelalgia Familial Hypercholesterolemia Fanconi Anemia Fatty Oxidation Floating-Harbor Syndrome Fragile X Syndrome Friedreich Ataxia Galactosemia Gaucher's Gene Therapy Genetic Testing and Counseling Glutaricaciduria Glycogen Storage Disease Type II Hailey-Hailey Disease

49. DINO - Language: Englisch - Health - Conditions And Diseases - Rare Disorders
Dieser Link verweist auf eine HauptKategorie Costello Syndrome Dieser Link verweistauf eine Haupt-Kategorie craniofrontonasal dysplasia Dieser Link verweist
http://www.dino-online.de/dino_page_737b0f3cee528dfecd76ceb660a41ed7.html
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You are here: DINO Language Englisch Health ... Conditions and Diseases Rare Disorders Rare Disorders This categorie in other languages
Italian
Categories Aarskog Syndrome
Aase Syndrome
Abetalipoproteinemia
Ablepharon-Macrostomia Syndrome
Adie Syndrome
Adrenoleukodystrophy
Agnosia
Aicardi Syndrome Alagille Syndrome Alstrom Syndrome Alternating Hemiplegia Apert Syndrome Arthrogryposis Ataxia Bardet-Biedl Syndrome Barth Syndrome Behcet's Syndrome Blastomycosis Botulism Celiac Cerebrocostomandibular Syndrome Charcot-Marie-Tooth Disease Cleidocranial Dysplasia Cockayne Syndrome Coffin Lowry Syndrome Cornelia De Lange Syndrome Corticobasal Degeneration Costello Syndrome Craniofrontonasal Dysplasia Cri du Chat Syndrome Crigler-Najjar Syndrome Cyclic Vomiting Syndrome Cystinosis Dandy Walker Syndrome Degos Dercum Disease DiGeorge Syndrome Dubowitz Syndrome Dystonia Ehlers-Danlos Syndrome Erythromelalgia Fabry's Familial Dysautonomia Fanconi Anemia Floating-Harbor Syndrome Friedreich Ataxia Galactosemia Gaucher's Gerstmann Syndrome Glutaricaciduria Guillain-Barre Syndrome Gustatory Sweating Hallervorden-Spatz Syndrome Hemihypertrophy Hemophilia Hereditary Angioedema Hidradenitis Suppurativa Homocystinuria Horner Syndrome Huntington's Hydrocephalus Incontinentia Pigmenti Isaacs Syndrome Jacobsen Syndrome Joubert Syndrome

50. Links SQL Health/Conditions And Diseases/Genetic Disorders/
Rate It Review It. NORD craniofrontonasal dysplasia Offers alternatenames, a general discussion and resources. http//www.stepstn
http://www.4allwebmasters.com/Health/Conditions_and_Diseases/Genetic_Disorders/C

51. Study Criteria
missing teeth; BorjesonForssman-Lehmann syndrome; Dyskeratosis congenita;craniofrontonasal dysplasia; Mohr syndrome; Otopalatodigital
http://www.dent.ohio-state.edu/lidrallab/Study Criteria.htm
Searching for the Genes That Cause Cleft Lip and Palate
Study Criteria - Information for Health Professionals
Contact Information for this Study
Return to Information for Families
The Main Study - Nonsyndromic Clefts: The first criteria to be in the study is that there are 2 or more blood-related people with a cleft who are willing to participate. These can be siblings, parent/child, grandparent/grandchild, uncle or aunt/nephew or niece, anything - even second cousins, great aunts, first cousins once removed, etc. If there are more than 2 affected family members, that's even better. CLEFT: There are 2 genetically distinct types of nonsyndromic clefts we are studying. The first type is familial cases of cleft lip with or without cleft palate (CL/P). The second type consists of cleft palate only (CPO). Occasionally we see somebody with a cleft lip related to somebody with just a cleft palate, but we think this is probably due to coincidence. However we would like to study these families as well, to explore this question. CHILDREN: The children can be of any age. Sometimes we plan to do the blood draw when the child is undergoing surgical repair. This way the blood can be drawn through the same line as the anesthesia IV, so the child is unconscious of any pain, and no extra needle puncture is required. We always try to verify that the child assents to the blood draw if they are over age 9.

52. Vindex, De Vindplaats Van Het Nederlandse Web
Syndrome@ Coffin Lowry Syndrome Congenital Pain Insensitivity@ Cornelia De LangeSyndrome@ Costello Syndrome Cowden Syndrome craniofrontonasal dysplasia Cri du
http://www.vindex.nl/dir/Health/Conditions_and_Diseases/Genetic_Disorders

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Huidige rubriek
Health
Conditions and Diseases Genetic Disorders
Subrubrieken Aarskog Syndrome
Aase Syndrome
Ablepharon-Macrostomia Syndrome Acoustic Neuroma@ ... Zellweger Syndrome Verwante Rubrieken Health:Conditions and Diseases:Rare Disorders Science:Biology:Genetics:Eukaryotic:Animal:Mammal:Human Links Your Genes, Your Health Gevonden in rubriek: Health Conditions and Diseases Genetic Disorders Omschrijving: The DNA Learning Center's multimedia guide to genetic disorders. Complete in depth articles about each disease listed. http://vector.cshl.org/ygyh Dr. Greene's HouseCalls Gevonden in rubriek: Health Conditions and Diseases Genetic Disorders Omschrijving: A discussion of medical information on trisomy, trisomy 13, genetics, and his own personal family experience with this rare disease. http://www.drgreene.com/html/21614.html

53. Vindex, De Vindplaats Van Het Nederlandse Web
Cockayne Syndrome@ Coffin Lowry Syndrome@ Cornelia De Lange Syndrome@ CorticobasalDegeneration@ Costello Syndrome@ craniofrontonasal dysplasia@ Cri du Chat
http://www.vindex.nl/dir/Health/Conditions_and_Diseases/Rare_Disorders

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Terug naar het overzicht
Huidige rubriek
Health
Conditions and Diseases Rare Disorders
Subrubrieken Aarskog Syndrome@
Aase Syndrome@
Abetalipoproteinemia@ Ablepharon-Macrostomia Syndrome@ ... Zollinger-Ellison Syndrome@ Verwante Rubrieken Health:Conditions and Diseases:Genetic Disorders Links Cherubs Gevonden in rubriek: Health Conditions and Diseases Rare Disorders Omschrijving: A non-profit support group for the families and medical care providers of children and adults born with Congenital Diaphragmatic Hernia. http://www.cherubs-cdh.org National Organization for Rare Disorders, Inc. Gevonden in rubriek: Health Conditions and Diseases Rare Disorders Omschrijving: Information about NORD, its programs, special events and the variety of services offered. Includes a rare disease, organization and orphan drug database. Diseases are listed alphabetically for easy searching. http://www.rarediseases.org/

54. Excite Deutschland - Web-katalog - C
28) Corticobasal Degeneration@ ( 3) Costello Syndrome@ ( 3) Costochondritis@ ( 5)Cowden Syndrome@ ( 3) craniofrontonasal dysplasia@ ( 3) Craniosynostosis@ ( 6
http://www.excite.de/directory/Health/Conditions_and_Diseases/C
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55. GeneCards: List Of Disease Genes
CFNS, craniofrontonasal syndrome (craniofrontonasal dysplasia), Xp22,craniofrontonasal dysplasia. CFTR, cystic fibrosis transmembrane
http://genecards.bcgsc.ca/cgi-bin/listdiseasecards?type=full

56. The Medword List - A Medical Directory Of Medical Transcription, Medicine And He
Costello Syndrome ( 3 ). Cowden Syndrome ( 3 ). craniofrontonasal dysplasia ( 3). CriglerNajjar Syndrome ( 4 ). Cystic Fibrosis ( 43 ). DiGeorge Syndrome ( 3).
http://www.medwordlist.com/Conditions_and_Diseases/Genetic_Disorders/

Books
Business Courses Diversions ... Conditions and Diseases : Genetic Disorders Categories: Aarskog Syndrome Aase Syndrome Ablepharon-Macrostomia Syndrome Alagille Syndrome ... Zellweger Syndrome Links:
  • Gene Clinics
    Medical genetics knowledge base. NIH funded, expert-authored descriptions of inherited disorders. Covers genetic testing in diagnosis and management and genetic counseling of patients.
    http://www.geneclinics.org
    (Added: Mon Jan 01 2001 Hits: 13 Rating: 0.00 Votes: ) Rate It
  • Genetic and Rare Conditions Site
    Lay advocacy groups, support groups, information on genetic conditions and birth defects for professionals, educators and individuals. Disorders from A-Z.
    http://www.kumc.edu/gec/support/
    (Added: Mon Jan 01 2001 Hits: 21 Rating: 0.00 Votes: ) Rate It
  • Primary Ciliary Dyskinesia
    Information on a rare congenital disease.
    http://www.p-c-d.org/en/
    (Added: Mon Jan 01 2001 Hits: 10 Rating: 0.00 Votes: ) Rate It
  • Rare Genetic Diseases In Children A layman's guide to genetic diseases, and a comprehensive resource for families on lysosomal storage diseases. http://mcrcr2.med.nyu.edu/murphp01/homenew.htm

57. $TITLE
Syndrome Congenital_Pain_Insensitivity Cornelia_De_Lange_Syndrome Costello SyndromeCowden Syndrome craniofrontonasal dysplasia Cri_du_Chat_Syndrome Crigler
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58. Birth Disorder Information Directory - T
Teebi Syndrome (Brachycephalofrontonasal dysplasia;craniofrontonasal Syndrome, Teebi Type)
http://www.bdid.com/defectt.htm

HOME
T
Takatsuki('s) Syndrome Tamari Goodman Syndrome (Congenital Heart Disease Radio Ulnar Synostos Mental Retardation) Tangier Disease Tardive Tibial Muscular Dystrophy Tarsal-Carpal Coalition Syndrome (Synostosis of Talus and Calcaneus with Short Stature) Tauri Disease (Glycogen Storage Disease, Type VII) Tay Sachs Disease Taybi Linder Syndrome (Cephaloskeletal Dysplasia) Teebi Syndrome (Brachycephalofrontonasal Dysplasia; Craniofrontonasal Syndrome, Teebi Type) Teebi Naguib Alawadi Syndrome Telfer Sugar Jaeger Syndrome (Piebald Trait with Neurologic Defects) Temporal-Central Focal Epilepsy

59. Bone Diseases, Developmental
of Wisconsin; Immunodeficiency with shortlimbed skeletal dysplasia (short-limbed ofWisconsin; craniofrontonasal SYNDROME; CFNS; craniofrontonasal SYNDROME; CFNS.
http://www.ohsu.edu/cliniweb/C5/C5.116.99.html
Bone Diseases, Developmental
Back to previous level

60. UNSW Embryology-OMIM Syndactyly List
LINKED 236500 HYDRANENCEPHALY WITH RENAL APLASIAdysplasia 239710 HYPERTELORISM,HYPOSPADIAS, POLYSYNDACTYLY SYNDROME *304110 craniofrontonasal SYNDROME; CFNS
http://anatomy.med.unsw.edu.au/cbl/embryo/OMIMfind/skmus/OMIM-syndactyly_list.ht
UNSW Embryology
MUSCULOSKELETAL DEVELOPMENT Embryology Home Page
Select Entries from OMIM Online Mendelian Inheritance in Man (Internet Link) This page is for computers without external internet access. Internet access computers can see the full description of the abnormality from the links below. Back to UNSW Embryology-Musculoskeletal Notes 169 entries found, searching for " syndactyly SYNDACTYLY, TYPE III
SYNDACTYLY, TYPE IV
SYNDACTYLY, TYPE V
CRYPTOPHTHALMOS WITH OTHER MALFORMATIONS
SYNDACTYLY, TYPE I
SYNDACTYLY, TYPE II
ECTODERMAL DYSPLASIA, CLEFT LIP AND PALATE, HAND AND FOOT DEFORMITY, AND MENTAL RETARDATION
SYNDACTYLY, TYPE I, WITH MICROCEPHALY AND MENTAL RETARDATION
CENANI SYNDACTYLISM
SCLEROSTEOSIS
SAETHRE-CHOTZEN SYNDROME; SCS SYNDACTYLY WITH RENAL AND ANOGENITAL MALFORMATIONS ECTODERMAL DYSPLASIA WITH MENTAL RETARDATION AND SYNDACTYLY ANOPHTHALMOS WITH LIMB ANOMALIES POLAND SYNDROME SYNDACTYLY-POLYDACTYLY-EARLOBE SYNDROME LONG QT SYNDROME WITH SYNDACTYLY APHALANGIA, PARTIAL, WITH SYNDACTYLY AND DUPLICATION OF METATARSAL IV

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