81. ORPHANET - Maladies Rares - Médicaments Orphelins Translate this page Version pour Impression, MALADIE treacher-collins, syndrome de, Synonyme(s) Dysostose mandibulo-faciale Franceschetti-Klein, syndrome de, CIM Q87.0, http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=861

82. ► Treacher-Collins Syndrome treachercollins syndrome. Definition treacher-collins syndrome is a hereditary condition that causes facial defects. Alternative Names http://www.umm.edu/ency/article/001659.htm

Disease Nutrition Surgery Symptoms Injury ... Z Maryland Medical Center Programs UM Hospital for Children Home Medical Reference Encyclopedia (English) Toggle English Spanish Treacher-Collins syndrome Overview Symptoms Treatment Prevention Definition: Treacher-Collins syndrome is a hereditary condition that causes facial defects. Alternative Names: Mandibulofacial dysostosis Causes, incidence, and risk factors: Treacher-Collins syndrome is inherited as an autosomal dominant trait. More than half of all cases are thought to be new mutations because there is no family history of the disease. A defective gene, called treacle, is the cause of this disease. This condition has variable expression, which means there may be a great variation in severity from generation to generation. Review Date: 10/28/2001 Reviewed By: David G. Brooks, M.D., Ph.D., Division of Medical Genetics, University of Pennsylvania Medical Center, Philadelphia, PA. Review provided by VeriMed Healthcare Network. Home Health Info Our Physicians Our Services ... Contact Us UNIVERSITY OF MARYLAND MEDICINE © 2001 UNIVERSITY OF MARYLAND MEDICAL SYSTEM This site developed and maintained by Public Affairs.

83. Treacher-Collins Syndrome - A Medical Reference Article treachercollins syndrome. A Center. A resource with information on over 10,000 medical topics including treacher-collins syndrome. http://www.umm.edu/dwp/007336.htm

Treacher-Collins syndrome A Medical Article provided by University of Maryland Medical Center A resource with information on over 10,000 medical topics including: Treacher-Collins syndrome Previous Next

84. Disease - Treacher-Collins Syndrome - Hartford, Connecticut , Saint Francis Care Disease treacher-collins syndrome - courtesy of Saint Francis Care of Hartford, Connecticut, contemporary medicine with major clinical concentrations in http://www.saintfranciscare.com/14106.cfm

@import url(main.css); About Us Health Information Adam Article Manager CareMail Signup ... Ways To Help Adam Article Manager Back Back to main Health Information page Disease - Treacher-Collins syndrome Definition: Treacher-Collins syndrome is a hereditary condition that causes facial defects. Alternative Names: Mandibulofacial dysostosis Causes And Risk: Treacher-Collins syndrome is inherited as an autosomal dominant trait. More than half of all cases are thought to be new mutations because there is no family history of the disease. A defective gene, called treacle, is the cause of this disease. This condition has variable expression, which means there may be a great variation in severity from generation to generation. Prevention: Genetic counseling is appropriate for prospective parents with a family history of Treacher-Collins syndrome. Symptoms: Abnormal external ears to almost complete absence of an ear Hearing loss Very small jaw ( micrognathia Extra large mouth Defect in the lower eyelid ( coloboma Scalp hair extends onto cheeks Cleft palate Signs And Tests: The child usually will show normal intelligence. Examination of the infant can show various abnormalities, including:

85. Treacher-Collins Syndrome - General Practice Notebook treachercollins syndrome. treacher-collins syndrome encompasses a spectrum of ear and facial malformations caused by first and second http://www.gpnotebook.co.uk/cache/-1872035833.htm

Treacher-Collins syndrome Treacher-Collins syndrome encompasses a spectrum of ear and facial malformations caused by first and second pharyngeal arch malformations. It is inherited in an autosomal dominant manner, with frequent incomplete expression. 60% of cases are new mutations. This syndrome may be the result of mutations in the TCOF1 gene. Click here for more information...

86. TCOF1 Reference. CD023534, 9, GCGGCGG^GAGcTACTTCCCCT, treachercollins syndrome, 1. CD023535, 15, CTGATC^TACCaccATCTGCTGCG, treacher-collins syndrome, 1. http://archive.uwcm.ac.uk/uwcm/mg/ns/4/127390.html

Small deletions Accession Number Location/ codon Deletion Phenotype Reference GCGGCGG^GAGcTACTTCCCCT Treacher-Collins syndrome CTGATC^TACCaccATCTGCTGCG Treacher-Collins syndrome CCTCTCTGCAg_I1E2_^AAGTGTTTCC Treacher-Collins syndrome GGAAGAG^GAGgAAGAAGCAGA Treacher-Collins syndrome CTGGC^AAGACtgGGAATTCCAT Treacher-Collins syndrome CCCTCA^GCAAatacTACGTTGGTC Treacher-Collins syndrome CGTTG^GTCTCagAAACTGAGGA Treacher-Collins syndrome GTGAT^GAGACagACGTGGAG_E6I6_GT Treacher-Collins syndrome GCCTCT^GAAAaAATTCTCCAG Treacher-Collins syndrome GGGCT^ACCCCagcaccccCTGGGAAGGC Treacher-Collins syndrome AGGAG^GACTCaGAGAGCAGCA Treacher-Collins syndrome GAGGAC^TCAGagAGCAGCAGCG Treacher-Collins syndrome CGGCC^CCTGCcAAGGAGTCCC Treacher-Collins syndrome CAGGAAA^GGGgCTGCCCCAGC Treacher-Collins syndrome GAGGAC^TCAGagagCAGTAGTGAG Treacher-Collins syndrome GGACTCA^GAGagCAGTAGTGAG Treacher-Collins syndrome GTGAG^GAATCagatagtgAGGAAGAGAA Treacher-Collins syndrome TGAGGAA^TCAgaTAGTGAGGAA Treacher-Collins syndrome AATCA^GATAGtGAGGAAGAGA Treacher-Collins syndrome TAGTGAG^GAAgagaaGACAGGTCTT Treacher-Collins syndrome ACGGGG^CCTAcagtcaccCAGGTGAAAG Treacher-Collins syndrome TGAAG^CCACCaGTGAGAAACC Treacher-Collins syndrome CCCCAG^AACAgTACCGTCTTG Treacher-Collins syndrome CAGGCC^CAGAcagggccagaGGAGGACTCA Treacher-Collins syndrome AGGCC^CAGACagGGCCAGAGGA Treacher-Collins syndrome GAGGAC^TCAGggAGCAGTGAGG Treacher-Collins syndrome GAGCAGT^GAGgAGGAGTCAGA Treacher-Collins syndrome GAGTCA^GACAgtgaGGAGGAGGCG Treacher-Collins syndrome

87. TREACHER COLLINS' SYNDROME - Meaning And Definition Of The Word Search Dictionary treacher collins syndrome Dictionary Entry and Meaning. Biology Dictionary. Definition Mandibulofacial dysostosis http://www.hyperdictionary.com/dictionary/Treacher Collins' syndrome

English Dictionary Computer Dictionary Thesaurus Dream Dictionary ... Medical Dictionary Search Dictionary: TREACHER COLLINS' SYNDROME: Dictionary Entry and Meaning Biology Dictionary Definition: Mandibulofacial dysostosis is characterized by small mouth and poorly developed zygomatic arches (the bones surrounding the eye); congenital heart diseases may be present. It is inherited as an autosomal dominant condition. Synonyms: mandibulofacial dysostosis HOME ABOUT HYPERDICTIONARY

88. Treacher-Collins' Syndrome, Vanderbilt Craniofacial Treatment Center treachercollins syndrome. treacher-collins’ syndrome is characterized by lack of bone development in the cheeks and sides of http://surgery.vanderbilt.edu/surgery/plastic/cfa/treacher.htm

Indications for Craniofacial Surgery Appointments Craniofacial Treatment Center Home Page Plastic Surgery ... Home Page Treacher-Collins' Syndrome Return to Indications for Craniofacial Surgery VUMC Home About VUMC ... Search URL: http://www.surgery.mc.vanderbilt.edu/surgery/plastic/cfa/treacher.htm Section Web Support Last Modified: Friday, 19 February 1999

89. OMIM - TREACHER COLLINS-FRANCESCHETTI SYNDROME; TCOF http://www3.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=154500

90. OMIM - TREACHER COLLINS-FRANCESCHETTI SYNDROME; TCOF http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=154500

91. Disease - Treacher-Collins Syndrome - Detroit, Michigan Disease treacher-collins syndrome - courtesy of Henry Ford Health System of Detroit, Michigan. Disease - treacher-collins syndrome. Definition http://www.henryfordhealth.org/12805.cfm

Health Encyclopedia Back to main Health Information page Disease - Treacher-Collins syndrome Definition: Treacher-Collins syndrome is a hereditary condition that causes facial defects. Alternative Names: Mandibulofacial dysostosis Causes And Risk: Treacher-Collins syndrome is inherited as an autosomal dominant trait. More than half of all cases are thought to be new mutations because there is no family history of the disease. A defective gene, called treacle, is the cause of this disease. This condition has variable expression, which means there may be a great variation in severity from generation to generation. Prevention: Genetic counseling is appropriate for prospective parents with a family history of Treacher-Collins syndrome. Symptoms: Abnormal external ears to almost complete absence of an ear Hearing loss Very small jaw ( micrognathia Extra large mouth Defect in the lower eyelid ( coloboma Scalp hair extends onto cheeks Cleft palate Signs And Tests: The child usually will show normal intelligence. Examination of the infant can show various abnormalities, including: Abnormal eye shape (palpebral fissure, antimongoloid slant)

92. Disease - Treacher-Collins Syndrome, North Carolina Disease treacher-collins syndrome, Online Medical Encyclopedia courtesy of University Health Systems of Eastern Carolina serving 29 counties in eastern North http://www.uhseast.com/12119.cfm

Back Email Us Search Centers of Excellence ... Disease Management Disease - Treacher-Collins syndrome Definition: Treacher-Collins syndrome is a hereditary condition that causes facial defects. Alternative Names: Mandibulofacial dysostosis Causes And Risk: Treacher-Collins syndrome is inherited as an autosomal dominant trait. More than half of all cases are thought to be new mutations because there is no family history of the disease. A defective gene, called treacle, is the cause of this disease. This condition has variable expression, which means there may be a great variation in severity from generation to generation. Prevention: Genetic counseling is appropriate for prospective parents with a family history of Treacher-Collins syndrome. Symptoms: Abnormal external ears to almost complete absence of an ear Hearing loss Very small jaw ( micrognathia Extra large mouth Defect in the lower eyelid ( coloboma Scalp hair extends onto cheeks Cleft palate Signs And Tests: The child usually will show normal intelligence. Examination of the infant can show various abnormalities, including: Abnormal eye shape (palpebral fissure, antimongoloid slant)

93. Treacher-Collins Syndrome treachercollins syndrome. Definition treacher-collins syndrome is a hereditary condition that causes facial defects. Alternative Names http://www.shands.org/health/information/article/001659.htm

Disease Injury Nutrition Poison ... Z Treacher-Collins syndrome Definition: Treacher-Collins syndrome is a hereditary condition that causes facial defects. Alternative Names: Mandibulofacial dysostosis Causes, incidence, and risk factors: Treacher-Collins syndrome is inherited as an autosomal dominant trait. More than half of all cases are thought to be new mutations because there is no family history of the disease. A defective gene, called treacle, is the cause of this disease. This condition has variable expression, which means there may be a great variation in severity from generation to generation. Symptoms: Abnormal external ears to almost complete absence of an ear Hearing loss Very small jaw ( micrognathia Extra large mouth Defect in the lower eyelid ( coloboma Scalp hair extends onto cheeks Cleft palate Signs and tests: The child usually will show normal intelligence. Examination of the infant can show various abnormalities, including: Abnormal eye shape (palpebral fissure, antimongoloid slant) Flat cheekbones Facial clefts Small jaw Low-set ears Malformed ears Abnormal ear canal Conductive hearing loss Defects in the eye ( coloboma that extends into the lower lid) Decreased eyelashes on the lower eyelid Treatment: Treatment consists of testing for and treating any hearing loss so a child can perform up to normal level in school. Plastic surgery can address the

94. Treacher-Collins Syndrome treachercollins syndrome. Alternative Names Mandibulofacial dysostosis. Treatment textLink. Treatment consists of testing for and http://www.mercydesmoines.org/adam/encyclopedia/ency/article/001659trt.asp

document.frmSearch.txtDoctorSearch.onkeydown = CheckKeyDoctor; document.frmSearch.txtHealthNewsSearch.onkeydown = CheckKeySite; Disease Injury Nutrition Poison ... Prevention Treacher-Collins syndrome Alternative Names: Mandibulofacial dysostosis Treatment: textLink Treatment consists of testing for and treating any hearing loss so a child can perform up to normal level in school. Plastic surgery can address the receding chin and other defects. Support Groups: Treacher Collins Foundation www.treachercollinsfnd.org Expectations (prognosis): Children with Treacher-Collins should grow to become normally functioning adults of normal intelligence. Careful attention to any hearing problems helps ensure better performance in school. Complications: Feeding difficulty Speaking difficulty Communication problems Vision problems Cosmetic appearance can cause other people to think the problem is worse than it is Calling your health care provider: This condition is usually apparent at birth. Call your health care provider if you have a child with Treacher-Collins syndrome and the hearing appears to be worse, or if other problems arise. A good plastic surgeon is very important as there is sometimes a need for a series of operations over years to correct birth defects. Review Date: 10/28/2001 Reviewed By: David G. Brooks, M.D., Ph.D., Division of Medical Genetics, University of Pennsylvania Medical Center, Philadelphia, PA. Review provided by VeriMed Healthcare Network.

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