Treacher Collins syndrome 1
TCS1

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Prevalence (%) of clinical parameters based on data from 1 references describing 35 individuals







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 Pubmed id number as a reference Organ system affected
Number of patients in the reference Percent affected patients (Between 0 and 1, eg. 0.1 = 10%)
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List of symptoms



Symptom/sign Organ system Percent affected Pubmed id Added on(yyyy-mm-dd) Edit/add reference
Downward sloping palpebral apertures skeletal 100 % 15340364 2015-02-27
Zygomatic hypoplasia skeletal 97 % 15340364 2015-02-27
Micrognathia skeletal 91 % 15340364 2015-02-27
Conductive hearing loss skeletal 83 % 15340364 2015-02-27
Microtia integumentary 71 % 15340364 2015-02-27
Ear malformation integumentary 71 % 15340364 2015-02-27
Ear canal atresia integumentary 67 % 15340364 2015-02-27
Speech delay nervous 57 % 15340364 2015-02-27
Lower eyelid coloboma integumentary 54 % 15340364 2015-02-27
Cleft lip or palate integumentary 33 % 15340364 2015-02-27
Choanal stenosis digestive 25 % 15340364 2015-02-27
Preauricular tags integumentary 24 % 15340364 2015-02-27
Tracheostoma respiratory 12 % 15340364 2015-02-27
Developmental delay nervous 10 % 15340364 2015-02-27



List of references:


Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation.
Ozge Altug Teber, Gabriele Gillessen-Kaesbach, Sven Fischer, Stefan Böhringer, Beate Albrecht, Angelika Albert, Mine Arslan-Kirchner, Eric Haan, Monika Hagedorn-Greiwe, Christof Hammans, Wolfram Henn, Georg Klaus Hinkel, Rainer König, Erdmute Kunstmann, Jürgen Kunze, Luitgard M Neumann, Eva-Christina Prott, Anita Rauch, Hans-Dieter Rott, Heide Seidel, Stephanie Spranger, Martin Sprengel, Barbara Zoll, Dietmar R Lohmann, Dagmar Wieczorek,



European journal of human genetics : EJHG - Nov 2004