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Encyclopedia > Treacher Collins syndrome
Treacher Collins syndrome
Classification & external resources
ICD-10 Q75.4
ICD-9 756.0
OMIM 154500
DiseasesDB 13267
MedlinePlus 001659
eMedicine plastic/183 
MeSH D008342

Treacher Collins syndrome (also known as Franceschetti-Zwahlen-Klein syndrome or mandibulofacial dysostosis) is a rare genetic disorder characterized by craniofacial deformities. Treacher Collins syndrome is found in 1 in 10,000 births. The typical physical features include downward slanting eyes, a small lower jaw, and malformed or absent ears. It is named after Edward Treacher Collins (1862–1932), the English surgeon and ophthalmologist who described its essential traits in 1900. The International Statistical Classification of Diseases and Related Health Problems (most commonly known by the abbreviation ICD) provides codes to classify diseases and a wide variety of signs, symptoms, abnormal findings, complaints, social circumstances and external causes of injury or disease. ... The following codes are used with International Statistical Classification of Diseases and Related Health Problems. ... // Q00-Q99 - Congenital malformations, deformations and chromosomal abnormalities (Q00-Q07) Congenital malformations of the nervous system (Q00) Anencephaly and similar malformations (Q01) Encephalocele (Q02) Microcephaly (Q03) Congenital hydrocephalus (Q04) Other congenital malformations of brain (Q05) Spina bifida (Q06) Other congenital malformations of spinal cord (Q07) Other congenital malformations of nervous... The International Statistical Classification of Diseases and Related Health Problems (most commonly known by the abbreviation ICD) provides codes to classify diseases and a wide variety of signs, symptoms, abnormal findings, complaints, social circumstances and external causes of injury or disease. ... The following is a list of codes for International Statistical Classification of Diseases and Related Health Problems. ... The Mendelian Inheritance in Man project is a database that catalogues all the known diseases with a genetic component, and - when possible - links them to the relevant genes in the human genome. ... The Disease Bold textDatabase is a free website that provides information about the relationships between medical conditions, symptoms, and medications. ... MedlinePlus (medlineplus. ... eMedicine is an online clinical medical knowledge base that was founded in 1996. ... Medical Subject Headings (MeSH) is a huge controlled vocabulary (or metadata system) for the purpose of indexing journal articles and books in the life sciences. ... A genetic disorder or a clinical phenotype. ... Dr. Edward Treacher Collins (1862–1932) was an English surgeon and ophthalmologist. ... Motto (French) God and my right Anthem God Save the King (Queen) England() – on the European continent() – in the United Kingdom() Capital (and largest city) London (de facto) Official languages English (de facto) Government Constitutional monarchy  -  Queen Queen Elizabeth II  -  Prime Minister Tony Blair MP Unification  -  by Athelstan 967  Area... A cardiothoracic surgeon performs a mitral valve replacement at the Fitzsimons Army Medical Center. ... This does not adequately cite its references or sources. ...

Contents

Cause

Treacher Collins syndrome is inherited in an autosomal-dominant pattern.

One known cause of this syndrome is a mutation in the TCOF1 gene, at chromosome 5-q32-q33.1. The protein coded by this gene is called treacle and has been hypothesised to assist in protein sorting during particular stages in embryonic development, particularly that of the structures of the head and face. The disorder is inherited in an autosomal-dominant pattern. Image File history File links Autodominant2. ... Image File history File links Autodominant2. ... It has been suggested that this article or section be merged into Dominance relationship. ... It has been suggested that mutant be merged into this article or section. ... TCOF1 (Treacher Collins-Franceschetti syndrome 1) is a gene that provides instructions for making a protein called treacle. ... For a non-technical introduction to the topic, see Introduction to Genetics. ... Chromosome 5 is one of the 23 pairs of chromosomes in humans. ... It has been suggested that this article or section be merged into Dominance relationship. ...


Symptoms

The symptoms of this disorder vary greatly, ranging from almost unnoticeable to severe. Most affected individuals have underdeveloped facial bones, which result in a sunken appearance in the middle of the face, a prominent nose, and a very small jaw and chin (micrognathia). Some people with this condition are also born with an opening in the roof of the mouth, called a cleft palate. In severe cases, underdevelopment of the facial bones may restrict an affected infant's airway, causing potentially life-threatening respiratory problems. Micrognathia is a medical term for an unnaturally small jaw. ... The airways are those parts of the respiratory system through which air flows, to get from the external environment to the alveoli. ...


People with Treacher Collins syndrome often have eyes that slant downward, sparse eyelashes, and a notch in the lower eyelids called a coloboma. This condition is also characterized by absent, small, or unusually formed ears (pinnae), called microtia. Defects in the middle ear (which contains three small bones that transmit sound) cause hearing loss in about half of cases. People with Treacher Collins syndrome usually have normal intelligence. A coloboma (also part of the rare Cat Eye syndrome) is the term used to describe a hole in one of the structures of the eye, such as the lens, eyelid, iris, retina, choroid or optic disc. ... Unilateral Grade III microtia (left side). ...


Trivia

Treacher Collins Syndrome was featured in the 2006 Nip/Tuck episode “Blu Mondae”. Nip/Tuck is an American television medical drama series created by Ryan Murphy for FX Networks. ... This is an episode list for Nip/Tuck, an American drama television series on FX Networks. ...


Julianna Wetmore was born with this syndrome. She is featured in TLC's "Born Without A Face." Julianna Wetmore (born March 2003) is a girl from Jacksonville, Florida. ... TLC is a cable TV network in the US and Canada, that carries a variety of informational and reality-based programming. ...


See also

Hearing loss with craniofacial syndromes is a common occurrence. ...

External links

  • Support Groups:
    • Treacher Collins - Face to Face
    • Treacher Group
    • Treacher Collins Connection

  Results from FactBites:
 
Treacher Collins Syndrome (878 words)
Mandibulofacial dysostosis, treacher collins type, with limb Anomalies Nager acrofacial dysostosis … The limb deformities in the Nager syndrome consist of absence of radius, radioulnar synostosis, and hypoplasia or absence of the thumbs.
Treacher Collins syndrome, also known as mandibulofacial dysostosis or Francheschetti Klein syndrome, is a rare and very complex genetic condition involving underdevelopment of the structures of the head and face.
Treacher Collins syndrom tillhör gruppen medfödda kraniofaciala missbildningar och kännetecknas främst av omfattande och komplicerade missbildningar i ansiktsskelettet.
  More results at FactBites »

 
 

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