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         Craniofrontonasal Dysplasia:     more detail

41. Smith’s Recognizable Patterns Of Human Malformation, 6th Edition
Synostosis Syndrome craniofrontonasal dysplasia Carpenter Syndrome GreigCephalopolysyndactyly Syndrome AntleyBixler Syndrome Baller-Gerold Syndrome
http://www.intl.elsevierhealth.com/catalogue/titleprint.cfm?ISBN=0721606156

42. CRS - Craniosynostosis
craniofrontonasal dysplasia, a distinct malformation syndrome, is characterizedby varying degrees of frontonasal dysplasia, craniosynostosis, and variable
http://www.pdg.cnb.uam.es/UniPub/iHOP/gg/87436.html
A mutation in the homeodomain of the human gene in a family affected with autosomal dominant craniosynostosis Abstract-7590591
We describe a mutation in the gene in affected members of a large family with inherited autosomal dominant craniosynostosis Abstract-898495
Role of N-cadherin and protein kinase C in osteoblast gene activation induced by the S252W fibroblast growth factor receptor 2 mutation in Apert craniosynostosis Abstract-8791142
We found previously that a single amino acid substitution in the homeodomain of the human gene is associated with the autosomal dominant disorder craniosynostosis , Boston type. Abstract-1732031
In this communication we present novel mutations associated with a spectrum of craniosyostosis phenotypes in 4 sporadic cases and in one family in which craniosynostosis segregates. Abstract-884151
Recently, mutations of the fibroblast growth factor receptor ) gene have been associated with several craniosynostosis conditions including Apert, Crouzon, Jackson-Weiss, and Pfeiffer syndromes.

43. P080 Craniofacial
EFNB1; craniofrontonasal dysplasia (CFND), or craniofrontonasal syndrome (CFNS),is characterized by hypertelorism, coronal synostosis with brachycephaly,
http://www.mlpa.com/p080.htm
Home MRC-Team FAQ Contact ...
MLPA P080 Manual
(Microsoft Office Word file) Vs. 02; 18-02-2005 SALSA MLPA KIT P080 CRANIOFACIAL Lot T his MLPA kit is designed to detect copy number changes of one or more exons in some genes that can cause craniofacial disorders. Furthermore probes are included to detect two mutations that cause APERT syndrome. TWIST (TWIST1) is a 2 exon gene on chromosome 7p21. The two exons are separated by a small (538 bp) intron. The TWIST gene product affects the transcription of fibroblast growth factor receptors (FGFRs). Disruption of TWIST is the cause of Saethre-Chotzen syndrome. An estimated 11 % of Saethre-Chotzen syndrome patients have a deletion of the TWIST gene. Included in this probemix is also a probe for the TWISTNB (TWIST nearby) gene located at a distance of 500 Kb from TWIST. Large deletions of the TWIST region often result in mental retardation. MSX2 is a 2 exon gene on chromosome 5q35.2. The two exons are separated by a 4.5 Kb intron. MSX2 dosage is critical for human skull development. Enlarged parietal foramina and craniosynostosis can result, respectively, from loss and gain of activity in an MSX2 pathway of calvarial osteogenic differentiation. ALX4 is a 4 exon gene on chromosome 11p11.2. The gene covers 45 Kb of chromosomal sequence.

44. Craniofrontonasal Dysplasia
Base de données sur les maladies rares et les médicaments orphelins.
http://www.orpha.net/static/GB/craniofrontonasal_dysplasia.html
Orphanet database access
Craniofrontonasal dysplasia
Direct access to data Summary
Clinical signs
  • Bifid tip/cleft nose
  • Brachycephaly/plat occiput
  • Broad nose
  • Depressed premaxillary region
  • Dysplastic/thick/grooved fingernails
  • Dysplastic/thick/grooved toenails
  • Facial structural asymetry
  • Frontal bossing
  • High vaulted/narrow palate
  • Hypertelorism
  • Sutural synostosis,multiple
  • Telecanthus
  • X-linked dominant inheritance
  • Abnormal dental position
  • Broad/bifid great toe
  • Clavicle absent/abnormal
  • Excess nuchal skin
  • Low hair line (back)
  • Mental retardation(mild)
  • Plagiocephaly
  • Preaxial polydactyly of toes
  • Restricted joint mobility
  • Scapula abnormal position
  • Short philtrum
  • Syndactyly of toes
  • Tented upper lip
  • Wide space between 1st-2nd toes
  • Asymmetric rib cage
  • Dolicho/Scaphocephaly
  • Pelvis anomaly
  • Shawl scrotum
  • Turri/oxy/acrocephaly
Update : 04/09/2005
Orphanet database access

45. ORPHANET - Maladies Rares - Médicaments Orphelins
This disorder differs from craniofrontonasal dysplasia by a nasal tip that maybe broad but not bifid, the absence of craniosynostosis or abnormalities of
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=1519

46. Craniofrontonasal Syndrome
CFNS. Craniofrontonasal dysostosis. craniofrontonasal dysplasia. A novel phenotypicpattern in Xlinked inheritance craniofrontonasal syndrome maps to Xp22
http://www.gfmer.ch/genetic_diseases_v2/gendis_detail_list.php?cat3=595

47. Orthopedic Topics/Paediatric Orthopaedics/Congenital Limb Malformations - Orthop
craniofrontonasal dysplasia malformations of the fingers and toes, and/orunderdevelopment of portions of the face (midface hypoplasia);
http://www.orthopaedicweblinks.com/Orthopedic_Topics/Paediatric_Orthopaedics/Con

48. Study Criteria
Chromosome abnormalities causing clefting or other craniofacial differences;craniofrontonasal dysplasia (OMIM 304110) or Frontonasal Dysplasia (OMIM
http://www.uiowa.edu/~didr/additional research projects.htm
Additonal Research Projects
Syndromic Forms of Clefting and Other Birth Defects In addition to the major non-syndromic cleft lip and palate study, Dr. Lidral and his lab also study or collaborate with other researchers on a few specific syndromes. These include:
  • Otopalatodigital syndrome Type 1 and 2 (OMIM # 311300) Chromosome abnormalities causing clefting or other craniofacial differences Craniofrontonasal Dysplasia (OMIM # 304110) or Frontonasal Dysplasia (OMIM # 305645) Hypodontia or congenitally missing teeth (OMIM # 106600 or OMIM GENE # 142983) Frontometaphyseal Dysplasia (OMIM # 305620) Melnick-Needles syndrome (OMIM # 309350) Vertebral Hypersegmentation
  • Large families with many affected people work best for these syndrome studies. Please contact Amy M. Mach for more information regarding each study. Return to home page

    49. GeneticsPhdDepartment
    At this time, my project is to study craniofacial syndromes that have cleftingas part of the phenotype such as craniofrontonasal dysplasia.
    http://www.uiowa.edu/~genetics/GeneticsStudents.htm

    50. A Listing Of Disorders
    craniofrontonasal dysplasia. Craniometaphyseal Dysplasia. Craniosynostosis, Primary.Cri du Chat Syndrome. Crigler Najjar Syndrome Type I
    http://medschool.umaryland.edu/BTBank/Family/Disorders_C.htm
    Brain and Tissue Bank
    University of Maryland, Baltimore C C Syndrome Camptomelic Syndrome Carbamyl Phosphate Synthetase Deficiency Carbohydrate deficient Glycoprotein Syndrome Type Ia Carboxylase Deficiency, Multiple Carcinoid Syndrome Cardio Auditory Syndrome Cardiofaciocutaneous Syndrome Carnitine Deficiency Syndromes Carnitine Palmitoyltransferase Deficiency Carnosinemia Caroli Disease Carpenter Syndrome Castleman's Disease Cat Eye Syndrome Cataract Dental Syndrome Cataracts Catel Manzke Syndrome Caudal Regression Syndrome Cavernous Hemangioma Cayler Syndrome Central Core Disease Central Hypoventilation Syndrome, Congenital Cerebellar Agenesis Cerebellar Degeneration, Subacute Cerebral Palsy Cerebro Oculo Facio Skeletal Syndrome Cerebrocostomandibular Syndrome Chandler's Syndrome Charcot Marie Tooth Disease CHARGE Association Chediak Higashi Syndrome Chiari Frommel Syndrome Chikungunya Cholangitis, Primary Sclerosing Cholecystitis Chondrocalcinosis, Familial Articular Choroideremia Choroiditis, Serpiginous Chromosome 1, Trisomy Chromosome 3, Monosomy 3p2

    51. RedNova News - Health - First-Trimester Three-Dimensional Ultrasonographic Findi
    Cohen MM Jr. craniofrontonasal dysplasia. Birth Defects 1979;15859. 65.Natarajan U, Baraitser M, craniofrontonasal dysplasia in two male sibs.
    http://www.rednova.com/news/health/115301/firsttrimester_threedimensional_ultras
    ANDP("ntn"); Ads_kid=0;Ads_bid=0;Ads_xl=0;Ads_yl=0;Ads_xp='';Ads_yp='';Ads_xp1='';Ads_yp1='';Ads_opt=0;Ads_wrd='[KeyWord]';Ads_prf='';Ads_par='';Ads_cnturl='';Ads_sec=0;Ads_channels='';
    SPECIAL NEWS
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    RedNova E-Mail My RedNova Join RedNova RSS Feeds ... Tell A Friend, Win $500 Ads by Google Posted on: Friday, 31 December 2004, 03:00 CST E-mail this to a friend Printable version Discuss this story in the forum Change Font Size: A A A
    First-Trimester Three-Dimensional Ultrasonographic Findings in a Fetus With Frontonasal Malformation
    A case of a frontonasal malformation observed during the first trimester with three-dimensional ultrasonography and fetoscopy is reported. Absence of the nasal bone and a poorly characterized nose were visualized at 11 5/7 weeks by two-dimensional ultrasonography. Rendered three-dimensional ultrasound images revealed absence of the nasal bridge, widely spaced frontal bones and hypertelorism. Fetoscopy, performed at 12 3/7 weeks, confirmed the hypertelorism and showed a broad translucent nose with a flat nasal bridge. The final diagnosis of frontonasal malformation was made at autopsy after pregnancy termination. A review of prenatally diagnosed cases as well as the various syndromes having frontonasal malformation as a common denominator is presented. Key words: FRONTONASAL MALFORMATION; FRONTONASAL DYSPLASIA; MIDLINE FACIAL CLEFT; FIRST TRIMESTER; PRENATAL DIAGNOSIS; THREE- DIMENSIONAL ULTRASOUND

    52. Index
    Craniofrontonasal Dysostosis craniofrontonasal dysplasia CraniofrontonasalSyndrome Craniometaphyseal Dysplasia Cranioorodigital Syndrome
    http://my.webmd.com/hw/index/index-topics-C.asp
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    Who We Are About WebMD Site Map You are in Medical Library Choose a Topic Our Content Sources Ask A Question Clinical Trials Health Guide A-Z Health Topics Symptoms Medical Tests Medications ... Support Organizations Search the Help Health Topics Click a letter to see a list of topics beginning with that letter A B C D ... CY C C Syndrome back to top C1-INH back to top CA Cacchi-Ricci Disease CAD (Coronary Artery Disease) CAH Calcaneal Valgus ... back to top CB CBGD CBPS back to top CC CCA CCD Central Core Disease CCD Cronkhite-Canada Syndrome CCHS ... back to top CD CD CDGP CDGS Type Ia CDI ... back to top CE CED Celiac Disease Cellulitis Celsus' Vitiligo ... back to top CF CF (Cystic Fibrosis) CFC syndrome Cardiofaciocutaneous Syndrome CFND CFS ... back to top CG CGD Granulomatous Disease, Chronic CGD Growth Delay, Constitutional CGF back to top CH Chagas Disease Chalasodermia, Generalized

    53. Maladies Rares, Maladies Orphelines
    Cowpox craniofrontonasal dysplasia Craniometaphyseal Dysplasia Craniosynostosis,Primary Creutzfeldt Jakob Disease Cri du Chat Syndrome
    http://www.fmo.easynetonline.net/anciensite/listnord.html
    Maladies rares
    maladies orphelines ATTENTION : VOUS ETES SUR L'ANCIEN SITE DE LA FEDERATION DES MALADIES ORPHELINES Vous pouvez vous diriger vers le nouveau site en cliquant - ici Retour Liste NORD
    http://www.rarediseases.org/lof/lof.html
    Rare Disease Database - RDB
    5 Oxoprolinuria
    A
    Aarskog Syndrome
    Aase Syndrome
    Ablepharon Macrostomia Syndrome
    Acanthocheilonemiasis
    Acanthocytosis Acanthosis Nigricans Achalasia Achard Thiers Syndrome Achondrogenesis Achondroplasia Acidemia, Isovaleric Acidemia, Methylmalonic Acidemia, Propionic Acne Rosacea Acoustic Neuroma Acrocallosal Syndrome, Schinzel Type Acrodermatitis Enteropathica Acrodysostosis Acromegaly Acromesomelic Dysplasia Acromicric Dysplasia ACTH Deficiency Adams Oliver Syndrome Addison's Disease Adie Syndrome Adrenal Hyperplasia, Congenital (General) Adrenoleukodystrophy Afibrinogenemia, Congenital Agammaglobulinemias, Primary Agenesis of Corpus Callosum Agnosia, Primary Visual Agranulocytosis, Acquired Ahumada Del Castillo Syndrome Aicardi Syndrome AIDS (Acquired Immune Deficiency Syndrome) AIDS Dysmorphic Syndrome Alagille Syndrome Albinism Alexander's Disease Alkaptonuria Allan Herndon Syndrome Alopecia Areata Alpers Disease Alpha-1-Antitrypsin Deficiency Alport Syndrome Alstrom Syndrome Alternating Hemiplegia of Childhood Alveolitis, Extrinsic Allergic

    54. Craniofrontonasal Dysplasia Conditions-and-diseases-genetic-disorders-craniofron
    A clinical synopsis of craniofrontonasal dysplasia. NORD CraniofrontonasalDysplasia. Offers a general discussion and resources.
    http://www.health-websites.info/i_conditions-and-diseases-genetic-disorders-cran
    home sitemap suggest url LOCATION HOME Conditions and Diseases Genetic Disorders Craniofrontonasal Dysplasia
    Craniofrontonasal Dysplasia
    OMIM: National Center for Biotechnology Information A clinical synopsis of Craniofrontonasal Dysplasia. http://www3.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?304110
    NORD: Craniofrontonasal Dysplasia
    Offers a general discussion and resources. http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Craniofrontonasal%20Dysplasia
    National Library of Medicine: CNFS
    Offers synonyms of craniofrontonasal syndrome, a summary and a list of features. http://www.nlm.nih.gov/mesh/jablonski/syndromes/syndrome252.html
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    55. JMG Online -- Table Of Contents (24 [4])
    craniofrontonasal dysplasia ID Young J Med Genet 1987; 24 193196. Localisation ofY chromosome sequences in normal and XX males
    http://jmg.bmjjournals.com/content/vol24/issue4/

    HOME
    HELP FEEDBACK SUBSCRIPTIONS ... SEARCH TABLE OF CONTENTS Author
    Keyword(s)
    Vol Page [Advanced] Only Abstracts available for this issue Other Issues: April 1987 (Volume 24, Number 4). [Index by author] Find articles in this issue containing these words:
    [Search ALL Issues]
    To see an article , click its [Full Text] link. To review many abstracts , check the boxes to the left of the titles you want, and click the 'Get All Checked Abstract(s)' button. To see one abstract at a time , click its [Abstract] link. Articles Craniofrontonasal dysplasia
    ID Young
    J Med Genet 1987; 24: 193-196. Localisation of Y chromosome sequences in normal and 'XX' males
    VJ Buckle, Y Boyd, N Fraser, PN Goodfellow, PJ Goodfellow, J Wolfe, and IW Craig
    J Med Genet 1987; 24: 197-203. [Abstract] A previously undescribed syndrome of thoracic dysplasia and communicating hydrocephalus in two sibs, one diagnosed prenatally by ultrasound
    RM Winter, S Campbell, JS Wigglesworth, and EJ Nevrkla

    56. JMG Online -- Table Of Contents (25 [2])
    craniofrontonasal dysplasia J Hurst and M Baraitser J Med Genet 1988; 25 133134.Ectrodactyly in sisters and half sisters RC Hennekam and EJ Lommen
    http://jmg.bmjjournals.com/content/vol25/issue2/

    HOME
    HELP FEEDBACK SUBSCRIPTIONS ... SEARCH TABLE OF CONTENTS Author
    Keyword(s)
    Vol Page [Advanced] Only Abstracts available for this issue Other Issues: February 1988 (Volume 25, Number 2). [Index by author] Find articles in this issue containing these words:
    [Search ALL Issues]
    To see an article , click its [Full Text] link. To review many abstracts , check the boxes to the left of the titles you want, and click the 'Get All Checked Abstract(s)' button. To see one abstract at a time , click its [Abstract] link. Articles Norrie disease resulting from a gene deletion: clinical features and DNA studies
    D Donnai, RC Mountford, and AP Read
    J Med Genet 1988; 25: 73-78. [Abstract] Confirmation of prenatal diagnosis of cystic fibrosis by DNA typing of fetal tissues
    A Curtis, L Strain, M Mennie, and DJ Brock
    J Med Genet 1988; 25: 79-82. [Abstract] Alpha 1 antitrypsin deficiency due to Pi null: clinical presentation and evidence for molecular heterogeneity
    FJ Bamforth and NA Kalsheker
    J Med Genet 1988; 25: 83-87.

    57. List Of Diseases Starting With C: Information From Answers.com
    Craniofaciocardioskeletal syndrome; Craniofaciocervical osteoglyphic dysplasia;craniofrontonasal dysplasia; Craniofrontonasal syndrome Teebi type
    http://www.answers.com/topic/list-of-diseases-starting-with-c
    showHide_TellMeAbout2('false'); Business Entertainment Games Health ... More... On this page: Wikipedia Or search: - The Web - Images - News - Blogs - Shopping List of diseases starting with C Wikipedia List of diseases starting with C A list of diseases in the English wikipedia. A B C D E F G ... Z
    C
    • C syndrome C1 esterase deficiency, (type 2 with ascites)
    Ca
    Cac-Cal
    Cam-Can
    • Camera Marugo -Cohen syndrome Camfak syndrome Campomelia Cumming type Camptobrachydactyly Camptocormism Camptodactyly fibrous tissue hyperplasia skeletal dysplasia Camptodactyly joint contractures facial skeletal dysplasia Camptodactyly overgrowth unusual facies Camptodactyly syndrome Guadalajara type 1 Camptodactyly syndrome Guadalajara type 2 Camptodactyly taurinuria Camptodactyly vertebral fusion Camptomelic syndrome Campylobacter infection Camurati Engelmann disease Canavan leukodystrophy Cancer Candidiasis familial chronic Candidiasis Canga's bead symptom Canine distemper Cantalamessa Baldini Ambrosi syndrome Cantu Sanchez Corona Fragoso syndrome Cantu Sanchez Corona Garcia syndrome Cantu Sanchez Corona Hernandes syndrome
    Cap
    • Capillary leak syndrome with monoclonal gammopathy Capillary venous leptomeningeal angiomatosis Capos syndrome
    Car
    Cara-Carc
    • Caratolo Cilio Pessagno syndrome Carbamoyl phosphate synthetase deficiency

    58. What's In A Face? - Nature Genetics
    Article PubMed ISI ChemPort ; MacPherson, E., Estop, A. PaulusThomas, J.craniofrontonasal dysplasia in a girl with del (X)(p222). Am. J. Hum.
    http://www.nature.com/ng/journal/v12/n2/abs/ng0296-124.html
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    doi:10.1038/ng0296-124
    What's in a face?
    Robin M. Winter Mothercare Unit of Clinical Genetics and Fetal Medicine, Institute of Child Health, 30 Guilford Street, London, WC1NIEH, UK. Genetic syndromes causing human facial abnormalities have been extensively studied from the clinical point of view. In these syndromes, distinctive facial features are frequently associated with specific defects of other organ systems, and the genes responsible must all play a significant part in normal development. In this paper genes causing craniofacial abnormalities, that have either been mapped or isolated, are reviewed REFERENCES
  • Dixon, J. et al . Positional cloning of a gene involved in the pathognesis of Treacher Collins syndrome. Nature Genet.
  • 59. Health: Conditions And Diseases: Genetic Disorders: Craniofrontonasal Dysplasia
    craniofrontonasal dysplasia Web Directory, find information for CraniofrontonasalDysplasia related websites.
    http://www.meta4.uk.com/directory/Health/Conditions_and_Diseases/Genetic_Disorde
    Craniofrontonasal Dysplasia Directory
    Web Search Home Health Conditions and Diseases Genetic Disorders : Craniofrontonasal Dysplasia National Library of Medicine: CNFS
    Offers synonyms of craniofrontonasal syndrome, a summary and a list of features.
    http://www.nlm.nih.gov/mesh/jablonski/syndromes/syndrome252.html
    NORD: Craniofrontonasal Dysplasia

    Offers a general discussion and resources.
    http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Craniofrontonasal%20Dysplasia
    OMIM: National Center for Biotechnology Information

    A clinical synopsis of Craniofrontonasal Dysplasia.
    http://www3.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?304110
    Help build the largest human-edited directory on the web. Submit a Site Open Directory Project Become an Editor Home ... Genetic Disorders : Craniofrontonasal Dysplasia : Category ID
    Health: Conditions and Diseases: Genetic Disorders: Craniofrontonasal Dysplasia Directory : Craniofrontonasal Dysplasia Reviewed Websites UK

    60. The Utah Statesman Online
    She suffers from craniofrontonasal dysplasia and needs the money to help withall the operations she has gone through and the ones that are yet to come.
    http://www.utahstatesman.com/news/2005/04/04/CampusNews/ADay-Proceeds.Help.8Year
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    Campus News Features Sports ... Dave Barry's home showNetworkBanner(1); var story_id = 911747; Home Campus News
    A-Day proceeds help 8-year-old girl in need
    By Shalane Peery Published: Monday, April 4, 2005 A-Day is one of the largest traditions at Utah State University, and this year students will participate in fun activities that will raise money for an 8-year-old girl to receive the medical attention she needs said A-Day Vice President Meghan Johnson.
    The tradition started in 1910 and USU has held a day that students could do service and give something back to the school or community ever since. Johnson said A-Day began as a day for students to wash windows, help cook meals and do various acts of service that would benefit the school.
    This day has evolved over the years to be a whole week when students can help out the community or certain people in the Cache Valley area by raising money through various activities such as benefit concerts and the "Day-on-the-Quad," Johnson said.
    Paola Bardales, 8, has been chosen as the person from the community that the proceeds will go to. She suffers from craniofrontonasal dysplasia and needs the money to help with all the operations she has gone through and the ones that are yet to come.

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