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         Treacher Collins Syndrome:     more detail
  1. Treacher Collins Syndrome - A Bibliography and Dictionary for Physicians, Patients, and Genome Researchers by Philip M. Parker, 2007-07-20
  2. Treacher Collins syndrome: An entry from Thomson Gale's <i>Gale Encyclopedia of Genetic Disorders, 2nd ed.</i> by Amie, MS Stanley, 2005

81. Treacher-Collins Syndrome
This brief patientoriented document provides information about treacher Collinssyndrome or mandibulofacial synostosis, which affects the size and shape of
http://omni.ac.uk/whatsnew/detail/4006142.html

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to whats new page. Treacher-Collins syndrome This brief patient-oriented document provides information about Treacher Collins syndrome or mandibulofacial synostosis, which affects the size and shape of the ears, cheek bones, and upper and lower jaws. It explains the characteristics, causes, expectations, and treatment. Published on the Web by the World Craniofacial Foundation in the US. Mandibulofacial Dysostosis
Last modified 15/Mar/2002 [Low Graphics]

82. 1Up Health > Treacher-Collins Syndrome > Causes, Incidence, And Risk Factors Of
Comprehesive information on treachercollins syndrome (Mandibulofacial dysostosis). treacher-collinssyndrome Causes, Incidence, and Risk Factors.
http://www.1uphealth.com/health/treacher_collins_syndrome_info.html
1Up Health Treacher-Collins syndrome Alternative Medicine Clinical Trials ... Health Topics A-Z Search 1Up Health Treacher-Collins syndrome Information Treacher-Collins syndrome Causes, Incidence, and Risk Factors Alternative names : Mandibulofacial dysostosis Definition : Treacher-Collins syndrome is a hereditary condition that causes facial defects.
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.
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83. 1Up Health > Treacher-Collins Syndrome (Mandibulofacial Dysostosis) Information
Comprehesive information on treachercollins syndrome (Mandibulofacial dysostosis). 1UpHealth Diseases Conditions treacher-collins syndrome.
http://www.1uphealth.com/health/treacher_collins_syndrome.html
1Up Health Alternative Medicine Clinical Trials Health News ... Health Topics A-Z Search 1Up Health Treacher-Collins syndrome Information Guide Alternative names : Mandibulofacial dysostosis Definition : Treacher-Collins syndrome is a hereditary condition that causes facial defects.
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84. Avera Health - Treacher-Collins Syndrome
treachercollins syndrome. Definition treacher-collins syndrome is a hereditarycondition that causes facial defects. Alternative Names
http://www.avera.org/adam/ency/article/001659.htm
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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) A flat or hypoplastic malar region (cheekbones) Facial clefts Small jaw ( micrognathia or hypoplastic mandible) Low-set ears Ear malformation (unusual shape to the 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

85. Treacher-Collins Syndrome - General Practice Notebook
medical information from General Practice Notebook. treachercollinssyndrome. treacher-collins syndrome encompasses a spectrum of
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.
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86. Health Ency.: Disease: Treacher-Collins Syndrome
Ency. home Disease T treachercollins syndrome. treacher-collins syndrome. treacher-collinssyndrome is a hereditary condition that causes facial defects.
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Ency. home Disease T Treacher-Collins syndrome Overview Symptoms Treatment Prevention Alternative names: Mandibulofacial dysostosis Definition: Treacher-Collins syndrome is a hereditary condition that causes facial defects. Causes and Risks 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. Ency. home Disease T Please read this Important notice Also Check Out
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87. Treacher-Collins Syndrome
treachercollins syndrome. Alternate Names Mandibulofacial dysostosis. Causes andRisks treacher-collins syndrome is inherited as an autosomal dominant trait.
http://www.rwjuhh.net/Atoz/encyclopedia/article/001659.asp
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Medical Encyclopedia Encyclopedia Disease T -> Treacher-Collins syndrome Treacher-Collins syndrome Alternate Names: Mandibulofacial dysostosis Causes and Risks: Treacher-Collins syndrome is inherited as an autosomal dominant trait. More than half of all cases are thought to be new mutations, because as there is no family history of the 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 very small jaw ( micrognathia 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) a flat or hypoplastic malar region (cheekbones)

88. Welcome To ENH.org - Health Encyclopedia: Treacher-Collins Syndrome
treachercollins syndrome. Definition treacher-collins syndrome is a hereditarycondition that causes facial defects. Alternative Names
http://www.enh.org/Encyclopedia/ency/article/001659.asp

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Treacher-Collins syndrome
Disease Injury Nutrition Poison ... Z 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)

89. Treacher-Collins Syndrome
treachercollins syndrome. Alternative Names Mandibulofacial dysostosis.Treatment Treatment consists of testing for and treating
http://www.pennhealth.com/ency/article/001659trt.htm
Disease Injury Nutrition Poison ... Prevention
Treacher-Collins syndrome
Alternative Names: Mandibulofacial dysostosis
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 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.

90. Genes That Cause Deafness
the face. Back to top. treachercollins syndrome. treacher-collins(TCS) is a condition which affects the craniofacial area. As well
http://www.deafgene.info/syndromic.htm
Syndromic deafness
These genes all cause deafness along with other symptoms
The list below does not contain all the genetic syndromes known to cause deafness - there are hundreds! But it does list the more common ones. Please use the glossary for words or terms that you do not understand. Pendreds syndrome
Ushers Syndrome

BOR

Waardenburg's Syndrome
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Neurofibromatosis

Pendred's syndrome (PDS gene) It has been estimated that around 4-8% of deaf children have Pendred's. The other principle feature of Pendred's is a thyroid goiter (swelling of the neck). It a autosomal recessive condition and is caused by mutations in the PDS gene (also known as DFNB4) which encodes a protein called pendrin. Despite the condition first being diagnosed way back in 1896 (by Dr V. Pendred) there is not a great of information available about it. One website you may find useful is: http://www.geocities.com/tony4jvc/index.html

91. Weyers' Syndrome II (www.whonamedit.com)
Also known as CurryHall syndrome,Miller's syndrome,Nager-De Reynier syndrome,TreacherCollins' syndrome,Weyers' acrodysplasia,Weyers' syndrome III.
http://www.whonamedit.com/synd.cfm/2001.html

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Weyers' syndrome II Also known as:
Curry-Hall syndrome
Miller's syndrome
Nager-De Reynier syndrome
Treacher Collins' syndrome Weyers' acrodysplasia Weyers' syndrome III Synonyms: Acrodental dysostosis, acrofacial dysostosis, acrofacial syndrome, dysplasia acro-dentalis, dysostosis acrofacialis. Associated persons: George Andreas Berry Cynthia J. R. Curry Ekkart Genée Bryan D. Hall ... Hans-Rudolf Wiedemann Description: A syndrome present from birth, affecting both sexes, characterised by postaxial polydactyly of the hands and feet, hexadactyly and fusion of 5th and 6th metatarsals and metacarpals, and bony clefts of the mandibular symphysis. Other features include anomalies of lower incisors and oral vestibule, ear anthelices, hypoplastic and dysplastic nails, and mild shortness of stature. Inheritance is autosomal dominant with variable expression. Miller's syndrome is entered as Genée-Wiedemann syndrome or diasease, under Ekkart Genée, German ophthalmologist, born 1936. Nager-de Reynier syndrome, or mandibulofacial dysostosis with limb malformations syndrome, is entered as a separate entity under Felix Robert Nager, Swiss otorhinolaryngologist, 1877-1959.

92. Dorlands Medical Dictionary
or swoon. AdamsStokes syncope, see under syndrome. cardiac ventriculartachycardia. carotid sinus syncope, see under syndrome. convulsive
http://www.mercksource.com/pp/us/cns/cns_hl_dorlands.jspzQzpgzEzzSzppdocszSzuszS

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