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pfeiffer syndrome - rare genetic syndrome with premature closure of skull sutures Definition for Pfeiffer Syndrome Pfeiffer syndrome is a genetic disorder characterized by the premature fusion of certain bones of the skull (craniosynostosis), which prevents further growth of the skull and affects the shape of the head and face. more Pfeiffer syndrome is a genetic disorder characterized by the premature fusion of certain bones of the skull (craniosynostosis), which prevents further growth of the skull and affects the shape of the head and face. In addition, the thumbs and big toes are broader and often shorter than normal. Pfeiffer syndrome affects about 1 in 100,000 individuals. less some common symptoms deformity of nose deformity skull face deformities some related diagnoses 1 - 7 of 7 diagnoses fetal alcohol syndrome nasal polyp syphilis 11q deletion syndrome leprosy Wegener's granulomatosis midline granuloma   more do i have 'Pfeiffer Syndrome'? In addition the following diagnostic tests might be need to help verify the diagnosis: diagnostic test search results for 'pfeiffer syndrome' 1 - 5 of 6 diagnostic tests Molecular Genetic Studies Pfeiffer Syndrome and Molecular Genetic Studies Prenatal Ultrasound Ultrasound on the fetus before birth Pfeiffer Syndrome and Prenatal Ultrasound Developmental testing Pfeiffer Syndrome and Developmental testing X-ray skull Pfeiffer Syndrome and X-ray skull X-rays Pfeiffer Syndrome and X-rays ultrasound 3D cranial sutures Pfeiffer Syndrome and ultrasound 3D cranial sutures for more please login, login is free (click to login) therapeutic procedures for 'Pfeiffer Syndrome'? 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 Pfeiffer Syndrome: therapeutic procedure search results for 'pfeiffer syndrome' 1 - 1 of 1 therapeutic procedures rankings are computer generated. please consult your health care provider. surgical remodeling of the skull Pfeiffer Syndrome and surgical remodeling of the skull medications search results for 'pfeiffer syndrome' rankings are computer generated. please consult your health care provider. web search results for pfeiffer syndrome Web (All)  |  Treatment  |  Drugs  |  Tests  |  Research  |  Diet Results 1 - 50 - Pfeiffer Syndrome Pfeiffer syndrome - Wikipedia, the free encyclopedia Pfeiffer syndrome is a genetic disorder characterized by the premature fusion of ... Type 1 or "classic" Pfeiffer syndrome has symptoms as described above. ... http://en.wikipedia.org/wiki/Pfeiffer_syndrome   en.wikipedia.org - summary Pfeiffer syndrome - Genetics Home Reference Pfeiffer syndrome is divided into three subtypes. Type 1, also known as classic Pfeiffer syndrome, has symptoms as described above. ... http://ghr.nlm.nih.gov/condition=pfeiffersyndrome   ghr.nlm.nih.gov - summary A case of Pfeiffer syndrome. A case of Pfeiffer syndrome. Park MS, Yoo JE, Chung J, Yoon SH. ... Pfeiffer Syndrome is as rare as Apert syndrome in the Western population. ... http://www.ncbi.nlm.nih.gov/pubmed/16614535   www.ncbi.nlm.nih.gov - summary [A case of Pfeiffer syndrome with psychomotor delay. Part I - Physical ... ... acrocephalosyndactyly (ACS) type V, or Pfeiffer Syndrome, is described in a 2 ... Diagnostic separation of the Pfeiffer Syndrome from the other craniostenosis and ... http://www.ncbi.nlm.nih.gov/pubmed/7170223   www.ncbi.nlm.nih.gov - summary Pfeiffer syndrome type 2: further delineation and review of the literature. ... 3 boys and 2 girls, with Pfeiffer syndrome (PS) type 2. They all had cloverleaf ... 2 (FGFR2) gene, that was earlier reported in PS and in Crouzon syndrome. ... http://www.ncbi.nlm.nih.gov/pubmed/9475590   www.ncbi.nlm.nih.gov - summary Pfeiffer syndrome - MedlinePlus - Health information - Genetics Home ... Genetic Conditions > Pfeiffer syndrome > MedlinePlus - Health information ... in the Genetics Home Reference condition summary on Pfeiffer syndrome. ... http://ghr.nlm.nih.gov/condition=pfeiffersyndrome/show/MedlinePlus   ghr.nlm.nih.gov - summary FGFR2 mutations in Pfeiffer syndrome. 1995 Feb;9(2):101-3. FGFR2 mutations in Pfeiffer syndrome. Lajeunie E, Ma HW, Bonaventure J, Munnich A, Le Merrer M, Renier D. ... http://www.ncbi.nlm.nih.gov/pubmed/7719333   www.ncbi.nlm.nih.gov - summary Pfeiffer syndrome - References - Genetics Home Reference ... mutational spectrum of the FGFR2 gene in Pfeiffer syndrome. Hum Genet. ... Harb E, Kran B. Pfeiffer syndrome: systemic and ocular implications. Optometry. ... http://www.ghr.nlm.nih.gov/condition=pfeiffersyndrome/show/References   www.ghr.nlm.nih.gov - summary Pfeiffer syndrome - Yahoo! Health Important It is possible that the main title of the report Pfeiffer syndrome is not the name you expected. Please check the synonyms listing to find the alternate ... http://health.yahoo.com/children-genetic/pfeiffer-syndrome/h...   health.yahoo.com - summary Pfeiffer Syndrome Type I Important It is possible that the main title of the report Pfeiffer Syndrome Type I is not the name you expected. ... http://www.webmd.com/children/Pfeiffer-Syndrome-Type-I   www.webmd.com - summary Orphanet: Pfeiffer syndrome The portal for rare diseases and orphan drugs ... Pfeiffer syndrome is characterised by the association of craniosynostosis, broad ... http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=710   www.orpha.net - summary Papilledema in patients with Apert, Crouzon, and Pfeiffer syndrome ... ... Apert, Crouzon, and Pfeiffer syndrome: prevalence, efficacy of ... a retrospective study on 84 patients with Apert, Crouzon, or Pfeiffer syndrome. ... http://www.ncbi.nlm.nih.gov/pubmed/18216676   www.ncbi.nlm.nih.gov - summary APERT SYNDROME - Pedbase.org An acrocephalosyndactyly syndrome characterized by craniosynostosis, severe ... Type III: Chotzen Syndrome (Saethre-Chotzen) Type V: Pfeiffer Syndrome ... http://www.pedbase.org/a/apert-syndrome   www.pedbase.org - summary Apert syndrome - Wikipedia, the free encyclopedia Crouzon syndrome. Pfeiffer syndrome. Hearing loss with craniofacial syndromes ... Pfeiffer syndrome · KAL2 Kallmann syndrome. FGFR2 ... http://en.wikipedia.org/wiki/Apert_syndrome   en.wikipedia.org - summary Webbing of the fingers or toes ... syndrome. Carpenter syndrome. Cornelia de Lange syndrome. Pfeiffer syndrome ... and signs that, when taken together, define a specific syndrome or condition. ... http://adam.about.com/encyclopedia/Webbing-of-the-fingers-or-toes.htm   adam.about.com - summary MedlinePlus Medical Encyclopedia: Frontal bossing Crouzon syndrome. Hurler syndrome. Pfeiffer syndrome. Rubinstein-Taybi syndrome. Russell-Silver syndrome (Russell-Silver dwarf) ... http://www.nlm.nih.gov/medlineplus/ency/article/003301.htm   www.nlm.nih.gov - summary Hearing loss with craniofacial syndromes - Wikipedia, the free encyclopedia ... with Pfeiffer syndrome; although, there have been reports of mixed hearing loss as well. ... Audiologic and otologic characteristics of Pfeiffer syndrome" ... http://en.wikipedia.org/wiki/Hearing_loss_with_craniofacial_syndromes   en.wikipedia.org - summary FGFR1 - fibroblast growth factor receptor 1 - Genetics Home Reference Pfeiffer syndrome - caused by mutations in the FGFR1 gene. Type 1 Pfeiffer syndrome is caused by a mutation in the FGFR1 gene that changes ... http://ghr.nlm.nih.gov/gene=fgfr1   ghr.nlm.nih.gov - summary CROUZON SYNDROME - Pedbase.org DEFINITION: A syndrome characterized by craniosynostosis and dysmorphic ... 1 Pfeiffer Syndrome. 2 Crouzon Syndrome Jackson-Weiss Syndrome. 3 Achondroplasia ... http://www.pedbase.org/c/crouzon-syndrome   www.pedbase.org - summary Cervical spine in Pfeiffer's syndrome. ... series of patients with Pfeiffer's syndrome who exhibit abnormalities have been published. ... of the cervical fusions in Pfeiffer's syndrome. Mesh Terms: ... http://www.ncbi.nlm.nih.gov/pubmed/9133831?dopt=Abstract   www.ncbi.nlm.nih.gov - 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 ... Pfeiffer Syndrome Type I. Pfeiffer-Weber ... http://www.webmd.com/a-to-z-guides/health-topics/pf-pj.htm   www.webmd.com - summary Hearing loss in Pfeiffer's syndrome. 1: Int J Pediatr Otorhinolaryngol. 1981 Dec;3(4):343-53. Hearing loss in Pfeiffer's syndrome. ... acrocephalosyndactyly, termed Pfeiffer's syndrome (McK+10160) ... http://www.ncbi.nlm.nih.gov/pubmed/7327850   www.ncbi.nlm.nih.gov - summary Chromosome 10 - Conditions related to genes on chromosome 10 - Genetics ... Apert syndrome. autosomal dominant partial epilepsy with auditory features ... Pfeiffer syndrome. porphyria. renal coloboma syndrome. tetrahydrobiopterin deficiency ... http://ghr.nlm.nih.gov/chromosome=10/show/Conditions   ghr.nlm.nih.gov - summary Frontal bossing Crouzon syndrome. Hurler syndrome. Pfeiffer syndrome. Rubinstein-Taybi syndrome. Russell-Silver syndrome (Russell-Silver dwarf) ... http://adam.about.com/encyclopedia/003301.htm   adam.about.com - summary Möbius syndrome - Wikipedia, the free encyclopedia Möbius syndrome (also spelled Moebius) is an extremely rare congenital ... syndrome/Pfeiffer syndrome, Saethre-Chotzen syndrome, Carpenter syndrome, Sakati ... http://en.wikipedia.org/wiki/M%C3%B6bius_syndrome   en.wikipedia.org - summary Chromosome 8 - Conditions related to genes on chromosome 8 - Genetics ... CHARGE syndrome. Cohen syndrome. color vision deficiency. congenital ... Kallmann syndrome. Langer-Giedion syndrome. Pfeiffer syndrome. Roberts syndrome ... http://ghr.nlm.nih.gov/chromosome=8/show/Conditions   ghr.nlm.nih.gov - summary Panniculitis, Idiopathic Nodular Important It is possible that the main title of the report Panniculitis, ... Pfeiffer-Weber-Christian syndrome. Relapsing Febrile Nodular Nonsuppurative Panniculitis ... http://www.webmd.com/skin-problems-and-treatments/panniculit...   www.webmd.com - summary PMID 16740155 16740155 2006 06 26 2007 10 02 2008 11 20 1750-1172 1 2006 Pfeiffer syndrome. 19 Pfeiffer syndrome is a rare autosomal dominantly inherited disorder that ... http://www.ncbi.nlm.nih.gov/pubmed/16740155   www.ncbi.nlm.nih.gov - summary Head and Brain Malformations - Genetics Home Reference Greig cephalopolysyndactyly syndrome. hereditary neuropathy ... Pfeiffer syndrome. Rubinstein-Taybi syndrome. Saethre-Chotzen syndrome. Smith-Magenis syndrome ... http://ghr.nlm.nih.gov/conditionGroup=headandbrainmalformations   ghr.nlm.nih.gov - summary Robinow syndrome - Wikipedia, the free encyclopedia Robinow syndrome is an extremely rare genetic disorder characterized by short ... Pfeiffer syndrome · KAL2 Kallmann syndrome. FGFR2 ... http://en.wikipedia.org/wiki/Robinow_syndrome   en.wikipedia.org - summary MedlinePlus: Head and Brain Malformations Aicardi Syndrome(National Institute of Neurological Disorders and Stroke) - Short Summary ... Genetics Home Reference: Pfeiffer syndrome(National Library of Medicine) ... http://www.nlm.nih.gov/medlineplus/headandbrainmalformations.html   www.nlm.nih.gov - summary FGFR-Related Craniosynostosis Syndromes -- GeneReviews -- NCBI Bookshelf Overall prognosis is more favorable than in Pfeiffer syndrome types 2 and 3. Pfeiffer syndrome type 2. Intellect. Developmental delay/mental retardation common ... http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=craniosynostosis   www.ncbi.nlm.nih.gov - summary Facial Injuries and Disorders - Genetics Home Reference Noonan syndrome. Pfeiffer syndrome. Robinow syndrome. Rubinstein-Taybi syndrome. Saethre-Chotzen syndrome. Simpson-Golabi-Behmel syndrome. Treacher Collins syndrome ... http://ghr.nlm.nih.gov/conditionGroup=facialinjuriesanddisorders   ghr.nlm.nih.gov - summary Muenke Syndrome -- GeneReviews -- NCBI Bookshelf ... who do not have any of the classic craniosynostosis syndromes (Pfeiffer syndrome, ... Pfeiffer syndrome type 1 -Bilateral coronal synostosis -Normal intellect ... http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=muenke   www.ncbi.nlm.nih.gov - summary Crouzon syndrome - Wikipedia, the free encyclopedia Specifically, this syndrome affects the first branchial (or pharyngeal) arch, ... Pfeiffer syndrome · KAL2 Kallmann syndrome. FGFR2 ... http://en.wikipedia.org/wiki/Crouzon_syndrome   en.wikipedia.org - summary PMID 8939381 Audiologic and otologic characteristics of Pfeiffer syndrome. ... and type of hearing loss and otopathology in patients with Pfeiffer syndrome. ... http://www.ncbi.nlm.nih.gov/pubmed/8939381   www.ncbi.nlm.nih.gov - summary Fountain syndrome - Wikipedia, the free encyclopedia Fountain syndrome is an autosomal recessive congenital disorder characterized by ... syndrome/Pfeiffer syndrome, Saethre-Chotzen syndrome, Carpenter syndrome, Sakati ... http://en.wikipedia.org/wiki/Fountain_syndrome   en.wikipedia.org - summary emailAFriend Pfeiffer Syndrome Type I * Indicates required fields. From: Your Name:* Your Email Address: ... Clicking the send button signifies that you have read and agree ... http://www.webmd.com/email_friend?chronicID=091e9c5e8001ed3d   www.webmd.com - summary Nail-patella syndrome - Wikipedia, the free encyclopedia Nail-patella syndrome (NPS) is a genetic disorder that results in small, poorly ... syndrome/Pfeiffer syndrome, Saethre-Chotzen syndrome, Carpenter syndrome, Sakati ... http://en.wikipedia.org/wiki/Nail-patella_syndrome   en.wikipedia.org - summary Kallmann Syndrome -- GeneReviews -- NCBI Bookshelf ... syndrome type 1. However, of the mutations that cause Pfeiffer syndrome, 95 ... Pfeiffer syndrome type 1 is characterized by coronal craniosynostosis with ... http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=kms   www.ncbi.nlm.nih.gov - summary Zori Stalker Williams syndrome - Wikipedia, the free encyclopedia Zori Stalker Williams syndrome at NIH's Office of Rare Diseases ... syndrome/Pfeiffer syndrome, Saethre-Chotzen syndrome, Carpenter syndrome, Sakati ... http://en.wikipedia.org/wiki/Zori_Stalker_Williams_syndrome   en.wikipedia.org - summary Kallmann Syndrome that cause Pfeiffer syndrome, 95% occur in FGFR2 and only 5% occur in FGFR1. ( See ... Pfeiffer syndrome type 1 is characterized by ... http://www.ncbi.nlm.nih.gov/bookshelf/picrender.fcgi?book=ge...   www.ncbi.nlm.nih.gov - summary Paternal origin of FGFR2 mutations in sporadic cases of Crouzon ... Crouzon syndrome and Pfeiffer syndrome are both autosomal dominant ... was noted for the fathers of patients with Crouzon syndrome or Pfeiffer syndrome, ... http://www.ncbi.nlm.nih.gov/pubmed/10712195   www.ncbi.nlm.nih.gov - summary Search Results - Genetics Home Reference Beare-Stevenson cutis gyrata syndrome. Condition summary ... Pfeiffer syndrome. Condition summary. Found in link title: Facial Injuries and Disorders ... http://ghr.nlm.nih.gov/ghr/search?query="Facial+Injuries+and...   ghr.nlm.nih.gov - summary 7719345 ... in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes. ... Six of the seven Pfeiffer syndrome patients share two missense mutations, which ... http://www.ncbi.nlm.nih.gov/pubmed/7719345   www.ncbi.nlm.nih.gov - summary Branchio-oto-renal syndrome - Wikipedia, the free encyclopedia Branchiootorenal syndrome from Gene Reviews. v ? d ? e ... syndrome/Pfeiffer syndrome, Saethre-Chotzen syndrome, Carpenter syndrome, Sakati ... http://en.wikipedia.org/wiki/Branchio-oto-renal_syndrome   en.wikipedia.org - summary Rubinstein-Taybi Syndrome -- GeneReviews -- NCBI Bookshelf ... Pfeiffer syndrome and Apert syndromes), Saethre-Chotzen syndrome, and Greig ... part of the FGFR-related craniosynostosis syndromes are Pfeiffer syndrome, Apert ... http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=rsts   www.ncbi.nlm.nih.gov - summary Keutel syndrome - Wikipedia, the free encyclopedia Keutel syndrome is a rare autosomal recessive genetic disorder characterized by ... syndrome/Pfeiffer syndrome, Saethre-Chotzen syndrome, Carpenter syndrome, Sakati ... http://en.wikipedia.org/wiki/Keutel_syndrome   en.wikipedia.org - summary FGFR1 - Related Condition(s) - Genetics Home Reference Kallmann syndrome. Pfeiffer syndrome. other disorders. Reviewed: August 2008 ... Lister Hill National Center for Biomedical Communications ... http://ghr.nlm.nih.gov/gene=fgfr1/show/Related+Condition(s)   ghr.nlm.nih.gov - summary Loeys-Dietz syndrome - Wikipedia, the free encyclopedia Information in this brief Wikipedia article includes symptoms, treatment, and additional links. ... Pfeiffer syndrome · KAL2 Kallmann syndrome. FGFR2 ... http://en.wikipedia.org/wiki/Loeys-Dietz_syndrome   en.wikipedia.org - summary show more 1  2