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Treacher Collins syndrome 1(TCS1)

MedGen UID:
994681
Concept ID:
CN315775
Disease or Syndrome
Synonyms: TCOF1-Related Treacher Collins Syndrome; TCS1
 
Gene (location): TCOF1 (5q32-33.1)
 
Monarch Initiative: MONDO:0007944
OMIM®: 154500

Disease characteristics

Excerpted from the GeneReview: Treacher Collins Syndrome
Treacher Collins syndrome (TCS) is characterized by lower eyelid abnormalities, malar hypoplasia, downslanted palpebral fissures, and micro- or retrognathia due to symmetric hypoplasia of the zygomatic bones, maxilla, and mandible. External ear anomalies include absent, small, malformed, and/or posteriorly rotated ears and atresia or stenosis of the external auditory canals. About 40%-50% of individuals have conductive hearing loss attributed most commonly to malformation of the ossicles and hypoplasia of the middle ear cavities. Inner ear structures tend to be normal. Significant respiratory and feeding difficulties can be present in infancy. Other, less common abnormalities include cleft palate and unilateral or bilateral choanal stenosis or atresia. Typically, intellect is normal. [from GeneReviews]
Authors:
Mafalda Barbosa  |  Ethylin Wang Jabs  |  Sara Huston   view full author information

Professional guidelines

PubMed

Luo S, Sun H, Bian Q, Liu Z, Wang X
Oral Dis 2023 Sep;29(6):2449-2462. Epub 2023 Mar 13 doi: 10.1111/odi.14508. PMID: 36648381
Marszałek-Kruk BA, Wójcicki P, Dowgierd K, Śmigiel R
Genes (Basel) 2021 Sep 9;12(9) doi: 10.3390/genes12091392. PMID: 34573374Free PMC Article
Nicolaides KH, Johansson D, Donnai D, Rodeck CH
Prenat Diagn 1984 May-Jun;4(3):201-5. doi: 10.1002/pd.1970040307. PMID: 6463027

Recent clinical studies

Etiology

Teissier N, Kaguelidou F, Couloigner V, François M, Van Den Abbeele T
Arch Otolaryngol Head Neck Surg 2008 Jan;134(1):57-61. doi: 10.1001/archoto.2007.20. PMID: 18209138

Diagnosis

Pan Z, Xu H, Chen B, Tian Y, Zhang L, Zhang S, Liu D, Liu H, Li R, Hu X, Guan J, Tang W, Lu W
Mol Genet Genomic Med 2021 Feb;9(2):e1573. Epub 2020 Dec 17 doi: 10.1002/mgg3.1573. PMID: 33332773Free PMC Article
Giabicani E, Lemale J, Dainese L, Boudjemaa S, Coulomb A, Tounian P, Dubern B
Arch Pediatr 2017 Oct;24(10):1000-1004. Epub 2017 Sep 15 doi: 10.1016/j.arcped.2017.07.004. PMID: 28927774
Higurashi M, Iijima K, Sugimoto Y, Ishikawa N, Hoshina H, Watanabe N, Yoneyama K
Am J Med Genet 1980;6(3):189-94. doi: 10.1002/ajmg.1320060303. PMID: 7424972

Prognosis

Teissier N, Kaguelidou F, Couloigner V, François M, Van Den Abbeele T
Arch Otolaryngol Head Neck Surg 2008 Jan;134(1):57-61. doi: 10.1001/archoto.2007.20. PMID: 18209138

Clinical prediction guides

Gowans LJJ, Al Dhaheri N, Li M, Busch T, Obiri-Yeboah S, Oti AA, Sabbah DK, Arthur FKN, Awotoye WO, Alade AA, Twumasi P, Agbenorku P, Plange-Rhule G, Naicker T, Donkor P, Murray JC, Sobreira NLM, Butali A
Mol Genet Genomic Med 2021 Apr;9(4):e1655. Epub 2021 Mar 14 doi: 10.1002/mgg3.1655. PMID: 33719213Free PMC Article
Teissier N, Kaguelidou F, Couloigner V, François M, Van Den Abbeele T
Arch Otolaryngol Head Neck Surg 2008 Jan;134(1):57-61. doi: 10.1001/archoto.2007.20. PMID: 18209138

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