reduced results from

180 B

28 M

3 M

222

191

to ~18 options

options split into images, definition, symptoms, related diagnoses, diagnostic tests, therapies, and medications

category genetic or congenital frequency rare (U.S.)

likelihood by age

likelyhood by duration of symptoms

related physician types genetics specialist family practitioner internist postal code Find Local The results are computer generated suggestions to help you find a physician. MEDgle does not recommend any particular type of physician or claim to be complete or accurate in the providers and specialties suggested.

craniofrontonasal dysplasia - rare genetic disorder Definition for craniofrontonasal dysplasia Craniofrontonasal syndrome is an X-linked syndrome which is more severe in females than males. Often males will have only hypertelorism (far apart eyes), whereas females have frontonasal dysplasia, craniofacial asymmetry, bifid nasal tip, grooved nails, wiry hair and anomalies of the thoracic skeleton. some common symptoms deformity of finger(s) deformity toe(s) face deformities some related diagnoses 1 - 7 of 18 diagnoses fetal alcohol syndrome psoriasis congenital heart disease hereditary sensory neuropathy type I gout arthritis rheumatoid arthritis   more do i have 'craniofrontonasal dysplasia'? In addition the following diagnostic tests might be need to help verify the diagnosis: diagnostic test search results for 'craniofrontonasal dysplasia' 1 - 5 of 5 diagnostic tests X-ray skull craniofrontonasal dysplasia and X-ray skull X-ray foot (feet) craniofrontonasal dysplasia and X-ray foot (feet) X-ray pelvis craniofrontonasal dysplasia and X-ray pelvis X-rays craniofrontonasal dysplasia and X-rays Molecular Genetic Studies craniofrontonasal dysplasia and Molecular Genetic Studies therapeutic procedures for 'craniofrontonasal dysplasia'? Managing or treating a diseases should always be determined by a patients health care provider. Below is a list of associated therapeutic procedures or medications for craniofrontonasal dysplasia: therapeutic procedure search results for 'craniofrontonasal dysplasia' 1 - 2 of 2 therapeutic procedures rankings are computer generated. please consult your health care provider. Craniofacial reconstruction craniofrontonasal dysplasia and Craniofacial reconstruction X-ray foot (feet) craniofrontonasal dysplasia and X-ray foot (feet) medications search results for 'craniofrontonasal dysplasia' rankings are computer generated. please consult your health care provider. web search results for craniofrontonasal dysplasia Web (All)  |  Treatment  |  Drugs  |  Tests  |  Research  |  Diet Results 1 - 50 - craniofrontonasal dysplasia Craniofrontonasal Dysplasia - Yahoo! Health Important It is possible that the main title of the report Craniofrontonasal Dysplasia is not the name you expected. Please check the synonyms listing to find the ... http://health.yahoo.com/children-genetic/craniofrontonasal-d...   health.yahoo.com - summary REFERENCES: Craniofrontonasal dysplasia REFERENCES: Craniofrontonasal dysplasia. Authors: Dr A. Vogels and Prof. J-P. Fryns ... References Craniofrontonasal dysplasia. Orphanet encyclopedia, March 2006. ... http://www.orpha.net/data/patho/GB/uk-RefCFNdysplasia.pdf   www.orpha.net - summary Craniofrontonasal syndrome - Wikipedia, the free encyclopedia Craniofrontonasal syndrome is an X-linked syndrome which is more severe in ... Craniofrontonasal dysplasia at NIH's Office of Rare Diseases OMIM: 304110 ... http://en.wikipedia.org/wiki/Craniofrontonasal_syndrome   en.wikipedia.org - summary MIM Gene map Craniofrontonasal dysplasia, 304110 (3) ?CFNS also on Xp22. REa, A, REc, H, Ch, Fd ... Ectodermal dysplasia, anhidrotic, X-linked, 305100 (3); Hypodontia, ... http://www.ncbi.nlm.nih.gov/Omim/getmap.cgi?l304110   www.ncbi.nlm.nih.gov - summary emailAFriend Craniofrontonasal Dysplasia * Indicates required fields. From: Your Name:* Your Email Address: ... Clicking the send button signifies that you have read and ... http://www.webmd.com/email_friend?chronicID=091e9c5e8001ee92   www.webmd.com - summary MIM Morbid map Craniofrontonasal dysplasia, 304110 (3) EFNB1, EPLG2, CFNS, CFND. 300035. Xq12 ... Craniometaphyseal dysplasia, 123000 (3) ANKH, HANK, ANK, CMDJ, CCAL2, CPPDD. 605145 ... http://www.ncbi.nlm.nih.gov/Omim/getmorbid.cgi?start=990   www.ncbi.nlm.nih.gov - summary Encyclopedia C-Cz on Yahoo! Health Health encyclopedia of diseases and conditions covering symptoms, definitions, alternative names, causes, incidence, ... Craniofrontonasal Dysplasia ... http://health.yahoo.com/ency/c/   health.yahoo.com - summary WebMD Health A-Z - Find reliable health and medical information on ... Find a comprehensive index of trusted health and medical information. It is your ultimate guide to reliable ... Craniofrontonasal Dysplasia ... http://www.webmd.com/a-to-z-guides/health-topics/cp-ct.htm   www.webmd.com - summary MIM Morbid map Craniofrontonasal dysplasia, 304110 (3) EFNB1, EPLG2, CFNS, CFND. 300035. Xq12 ... Craniometaphyseal dysplasia, 123000 (3) ANKH, HANK, ANK, CMDJ, CCAL2, CPPDD. 605145 ... http://www.ncbi.nlm.nih.gov/Omim/getmorbid.cgi?start=997   www.ncbi.nlm.nih.gov - summary Teebi hypertelorism syndrome. ... an autosomal dominant syndrome with resemblance to craniofrontonasal dysplasia. Here we present a 2 year 5 month old girl with Teebi syndrome showing a ... http://www.ncbi.nlm.nih.gov/pubmed/14564158   www.ncbi.nlm.nih.gov - summary Twenty-six novel EFNB1 mutations in familial and sporadic ... Craniofrontonasal syndrome (CFNS) is an X-linked disorder characterized by a ... Heterozygous females have craniofrontonasal dysplasia (CFND) and occasionally ... http://www.ncbi.nlm.nih.gov/pubmed/15959873   www.ncbi.nlm.nih.gov - summary Statistique d'Usage du Serveur Orphanet orphanet.orpha.net - Mai 2006 ... craniodiaphyseal dysplasia 5 0.01% craniostenosi 5 0.01% cromomicosis 5 0.01 ... en trebol 4 0.01% cranio bífido 4 0.01% craniofrontonasal dysplasia 4 0.01 ... http://orphanet.orpha.net/stat/orphanet/search_200605.html   orphanet.orpha.net - summary Hypertelorism: nosologic analysis of 90 patients. The word hypertelorism is used to describe increased interorbital distance, a ... most common cause was craniofrontonasal dysplasia (n = 18), a genetic syndrome ... http://www.ncbi.nlm.nih.gov/pubmed/9030136   www.ncbi.nlm.nih.gov - summary Statistique d'Usage du Serveur Orphanet orphanet.orpha.net - Octobre ... ... 5 0.01% costelas 5 0.01% craniofrontonasal dysplasia 5 0.01% crigler najjar 5 ... de la infancia 3 0.01% epiphyseal dysplasia 3 0.01% epitelioma 3 0.01% epstein ... http://orphanet.orpha.net/stat/orphanet/search_200710.html   orphanet.orpha.net - summary AceView: Gene:EFNB1, a comprehensive annotation of human, mouse and ... AceView offers a comprehensive annotation of human, mouse and nematode genes reconstructed by co-alignment and ... (Craniofrontonasal dysplasia; ... http://www.ncbi.nlm.nih.gov/IEB/Research/Acembly/av.cgi?db=h...   www.ncbi.nlm.nih.gov - summary S Tinschert - NextBio ... EFNB1 mutations in familial and sporadic craniofrontonasal syndrome (CFNS) ... Heterozygous females have craniofrontonasal dysplasia (CFND) and occasionally ... http://www.nextbio.com/b/literature/literature.nb?author=S+Tinschert   www.nextbio.com - summary OMIM Update List for February, 1996 304110 CRANIOFRONTONASAL DYSPLASIA; CFND. 311200 ORAL-FACIAL-DIGITAL SYNDROME TYPE I ... 129500 ECTODERMAL DYSPLASIA, HIDROTIC. 147420 INCLUSION BODY MYOPATHY; IBM1 ... http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?2.1996   www.ncbi.nlm.nih.gov - summary Orphanet: Craniofrontonasal dysplasia The portal for rare diseases and orphan drugs ... Craniofrontonasal dysplasia is a very rare X-linked disorder characterised by ... http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=1520   www.orpha.net - summary MIM Gene map Craniofrontonasal dysplasia, 304110 (3) ?CFNS also on Xp22. REa, A, REc, H, Ch, Fd ... Ectodermal dysplasia, anhidrotic, X-linked, 305100 (3); Hypodontia, ... http://www.ncbi.nlm.nih.gov/Omim/getmap.cgi?l300210   www.ncbi.nlm.nih.gov - summary MIM Gene map Craniofrontonasal dysplasia, 304110 (3) ?CFNS also on Xp22. REa, A, REc, H, Ch, Fd ... Ectodermal dysplasia, anhidrotic, X-linked, 305100 (3); Hypodontia, ... http://www.ncbi.nlm.nih.gov/Omim/getmap.cgi?l300519   www.ncbi.nlm.nih.gov - summary MIM Gene map The OMIM Gene map presents the cytogenetic map location of disease genes and ... Craniofrontonasal dysplasia, 304110 (3) ?CFNS also on Xp22. REa, A, REc, H, Ch, Fd ... http://www.ncbi.nlm.nih.gov/Omim/getmap.cgi?l301770   www.ncbi.nlm.nih.gov - summary MIM Gene map The OMIM Gene map presents the cytogenetic map location of disease genes and ... Craniofrontonasal dysplasia, 304110 (3) ?CFNS also on Xp22. REa, A, REc, H, Ch, Fd ... http://www.ncbi.nlm.nih.gov/Omim/getmap.cgi?l302020   www.ncbi.nlm.nih.gov - summary MIM Gene map The OMIM Gene map presents the cytogenetic map location of disease genes and ... Craniofrontonasal dysplasia, 304110 (3) ?CFNS also on Xp22. REa, A, REc, H, Ch, Fd ... http://www.ncbi.nlm.nih.gov/Omim/getmap.cgi?l309610   www.ncbi.nlm.nih.gov - summary Statistique d'Usage du Serveur Orphanet orphanet.orpha.net - Aout 2007 ... ... syndrome 22 0.02% coxa vara 22 0.02% craniodiaphyseal dysplasia 22 0.02 ... magenis 12 0.01% spondylometaphyseal dysplasia 12 0.01% síndrome de waardenburg ... http://orphanet.orpha.net/stat/orphanet/search_200708.html   orphanet.orpha.net - summary Shawl scrotum - Wikipedia, the free encyclopedia Shawl scrotum is a condition in which the scrotum surrounds the penis, ... Aarskog-Scott syndrome, Rubenstein - Taybi syndrome, craniofrontonasal dysplasia, ... http://en.wikipedia.org/wiki/Shawl_scrotum   en.wikipedia.org - summary Manitoba Oculotrichoanal Syndrome -- GeneReviews -- NCBI Bookshelf Craniofrontonasal dysplasia (CFND) shares the main craniofacial phenotype with ... Jones KL (2006) Frontonasal dysplasia sequence. ... http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=mota   www.ncbi.nlm.nih.gov - summary OMIM Update List for March, 1996 123000 CRANIOMETAPHYSEAL DYSPLASIA, DOMINANT TYPE ... 304110 CRANIOFRONTONASAL DYSPLASIA; CFND. 600160 CYCLIN-DEPENDENT KINASE INHIBITOR 2A; CDKN2A ... http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?3.1996   www.ncbi.nlm.nih.gov - summary Greig Cephalopolysyndactyly Syndrome -- GeneReviews -- NCBI Bookshelf ... anomalies such as pituitary dysplasia with panhypopituitarism ... Craniofrontonasal dysplasia has similar facial features [Gorlin et al 1990]. Management ... http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=gcps   www.ncbi.nlm.nih.gov - summary List of diseases (C) - Wikipedia, the free encyclopedia Craniofaciocervical osteoglyphic dysplasia. Craniofrontonasal dysplasia. Craniofrontonasal syndrome Teebi type. Craniometaphyseal dysplasia dominant type ... http://en.wikipedia.org/wiki/List_of_diseases_(C)   en.wikipedia.org - summary X-Linked Opitz G/BBB Syndrome -- GeneReviews -- NCBI Bookshelf Craniofrontonasal dysplasia (OMIM 304110) ... proportion of individuals with craniofrontonasal dysplasia have a mutation in EFNB1. ... http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=opitz   www.ncbi.nlm.nih.gov - summary Statistique d'Usage du Serveur Orphanet orphanet.orpha.net - Septembre ... ... pigmentosa 10 0.02% right ventricular dysplasia 10 0.02% rubeola congenita 10 ... fotos de niños con progeria 3 0.01% frontonasal dysplasia 3 0.01% frutosúria 3 ... http://www.orpha.net/stat/orphanet/search_200609.html   www.orpha.net - summary X-Linked Opitz G/BBB Syndrome common with Opitz G/BBB syndrome, craniofrontonasal dysplasia has skeletal, skin, ... of individuals with craniofrontonasal. dysplasia have a mutation in ... http://www.ncbi.nlm.nih.gov/bookshelf/picrender.fcgi?book=ge...   www.ncbi.nlm.nih.gov - summary E Zackai - NextBio Acromicric dysplasia AKT3 APOE autoimmune disease Bardet-Biedl ... by craniofrontonasal dysplasia and extracranial manifestations in heterozygous females. ... http://www.nextbio.com/b/literature/literature.nb?author=E+Zackai   www.nextbio.com - summary Statistique d'Usage du Serveur Orphanet orphanet.orpha.net - Juillet ... ... punctata 19 0.02% craniodiaphyseal dysplasia 19 0.02% cuadriplejia 19 0.02 ... syndrome 5 0.00% craneofaringioma 5 0.00% craniolenticulosutural dysplasia ... http://orphanet.orpha.net/stat/orphanet/search_200707.html   orphanet.orpha.net - summary Statistique d'Usage du Serveur Orphanet orphanet.orpha.net - Octobre ... ... rett 12 0.02% right ventricular dysplasia 12 0.02% salmonelose 12 0.02% seckel ... demencia fronto-temporal 3 0.01% dentin dysplasia type 2 3 0.01% dentina 3 0.01 ... http://www.orpha.net/stat/orphanet/search_200610.html   www.orpha.net - summary R Ciccone - NextBio ... OPHN1, PJA1 and EDA in patients with craniofrontonasal syndrome. ... by craniofrontonasal dysplasia and extracranial manifestations in heterozygous females. ... http://www.nextbio.com/b/literature/literature.nb?author=R+Ciccone   www.nextbio.com - summary Statistique d'Usage du Serveur Orphanet orphanet.orpha.net - Decembre ... ... mandibuloacral dysplasia 3 0.02% mano hendida-pie hendido 3 0.02% marche des ... 2 0.01% epiphyseal dysplasia of the toes 2 0.01% ergotherapy for amputated ... http://www.orpha.net/stat/orphanet/search_200712.html   www.orpha.net - summary OMIM Update List for April, 2004 215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA ... 259775 OSTEOSCLEROTIC BONE DYSPLASIA, LETHAL. 304110 CRANIOFRONTONASAL SYNDROME; CFNS ... http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?4.2004   www.ncbi.nlm.nih.gov - summary Manitoba Oculotrichoanal Syndrome dysplasia, and they do not fulfill the clinical diagnostic criteria ... Craniofrontonasal ... the ephrin-B1 gene cause craniofrontonasal syndrome. Am J Hum Genet ... http://www.ncbi.nlm.nih.gov/bookshelf/picrender.fcgi?book=ge...   www.ncbi.nlm.nih.gov - summary Characterization of Cxorf5 (71-7A), a novel human cDNA mapping to Xp22 ... The human X chromosome is known to contain several disease genes yet to be ... dysplasia late, oral-facial-digital syndrome type 1, craniofrontonasal syndrome, ... http://www.ncbi.nlm.nih.gov/pubmed/9722947   www.ncbi.nlm.nih.gov - summary Orphanet: Diseases list The portal for rare diseases and orphan drugs ... Craniofrontonasal dysplasia. Craniofrontonasal dysplasia - Poland anomaly. Craniofrontonasal dysplasia, Teebi ... http://www.orpha.net/consor/cgi-bin/Disease_Search_List.php?lng=EN&TAG=C   www.orpha.net - summary OMIM Update List for January, 1998 304110 CRANIOFRONTONASAL SYNDROME; CFNS. 305000 DYSKERATOSIS CONGENITA; DKC ... DEAFNESS, AND RENAL DYSPLASIA ... 264180 PSEUDODIASTROPHIC DYSPLASIA ... http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?1.1998   www.ncbi.nlm.nih.gov - summary Abnormal palmar creases - NextBio Craniofrontonasal syndrome (CFNS) is characterized by craniosynostosis, ... with muscular hypoplasia, skeletal dysplasia, and abnormal palmar creases: Tel ... http://www.nextbio.com/b/home/home.nb?q=Abnormal+palmar+crea...   www.nextbio.com - summary OMIM Update List for November, 1997 304110 CRANIOFRONTONASAL SYNDROME; CFNS. 600225 GTP CYCLOHYDROLASE I; GCH1 ... 300106 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, X-LINKED ... http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?11.1997   www.ncbi.nlm.nih.gov - summary OMIM Update List for May, 2004 304110 CRANIOFRONTONASAL SYNDROME; CFNS. 600979 LYMPHOTOXIN B RECEPTOR; LTBR ... 183900 SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; SEDC ... 305400 FACIOGENITAL DYSPLASIA ... http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?5.2004   www.ncbi.nlm.nih.gov - summary OMIM Update List for June, 2004 Clinical Synopsis for 271630 SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, TOLEDO TYPE ... Clinical Synopsis for 304110 CRANIOFRONTONASAL SYNDROME; CFNS ... http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?6.2004   www.ncbi.nlm.nih.gov - summary OMIM Update List for July, 2004 304110 CRANIOFRONTONASAL SYNDROME; CFNS. 600334 TIBIAL MUSCULAR DYSTROPHY, TARDIVE ... 603546 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH MULTIPLE DISLOCATIONS ... http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?7.2004   www.ncbi.nlm.nih.gov - summary Orbital separation excessive(hypertelorism) - NextBio Craniofrontonasal syndrome (CFNS) is an X-linked disorder that exhibits a ... characteristically have frontonasal dysplasia, craniosynostosis, and additional ... http://www.nextbio.com/b/home/home.nb?q=hypertelorism   www.nextbio.com - summary Congenital Diaphragmatic Hernia Overview -- GeneReviews -- NCBI Bookshelf ... anomalies (renal dysplasia and cysts, bicornuate ... Craniofrontonasal syndrome ... Connective tissue dysplasia characterized by tall stature (compared to ... http://www.ncbi.nlm.nih.gov/books/bv.fcgi?indexed=google&rid=gene.chapter.cdh-ov   www.ncbi.nlm.nih.gov - summary FGFR-Related Craniosynostosis Syndromes -- GeneReviews -- NCBI Bookshelf ... dysplasia is a skeletal dysplasia syndrome ... Thanatophoric dysplasia ... Craniofrontonasal syndrome is characterized by premature closure of the coronal ... http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=craniosynostosis   www.ncbi.nlm.nih.gov - summary show more 1  2