Medicine:Otofaciocervical syndrome
| Otofaciocervical syndrome | |
|---|---|
| Other names | Fars Chlupackova syndrome |
 | |
| Specialty | Medical genetics |
| Causes | Genetic mutation |
| Risk factors | Depends on the type |
| Prevention | None |
| Prognosis | Bad, nearing medium |
| Frequency | Very rare, a total of 24 cases (from both types combined) have been reported worldwide. |
| Deaths | - |
Otofaciocervical syndrome, also known as Fara Chlupackova syndrome,[1] are a small group of rare developmental disorders of genetic origin which are characterized by facial dysmorphisms, long neck, preauricular and/or branchial pits, cervical muscle hypoplasia, hearing loss, and mild intellectual disabilities. Additional findings include vertebral anomalies and short stature.[2]
Types
There are two types of OFC:
Otofaciocervical syndrome type 1
It is characterized by facial dysmorphisms, low-set cup-shaped ears, preauricular sinus or cyst, hearing loss, branchial and skeletal anomalies, low-set clavicle bones, winged scapulae, sloping shoulders and mild intellectual disabilities. It is caused by autosomal dominant mutations in the EYA1 gene in chromosome 8.[3] Only 11 cases have been reported in medical literature.[4][5][6][7]
Otofaciocervical syndrome type 2
It is characterized by the same symptoms in type 1, this disorder is different from type 1 because of its genetic cause and because of its additional features: thymus development alterations with T-cell immunodeficiency and recurrent infections which may turn fatal. It is caused by autosomal recessive mutations in the PAX1 gene in chromosome 20.[8] Only 13 cases have been described in medical literature.[9][10][11][12]
References
- ↑ "Fara Chlupackova syndrome - About the Disease - Genetic and Rare Diseases Information Center" (in en). https://rarediseases.info.nih.gov/diseases/2273/fara-chlupackova-syndrome.
- ↑ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Fara Chlupackova syndrome" (in en). https://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=2540&Disease_Disease_Search_diseaseType=ORPHA&Disease_Disease_Search_diseaseGroup=2792&Disease(s)/group%20of%20diseases=Fara-Chlupackova-syndrome&title=Fara-Chlupackova-syndrome&search=Disease_Search_Simple.
- ↑ "OMIM Entry - # 166780 - OTOFACIOCERVICAL SYNDROME 1; OTFCS" (in en-us). https://omim.org/entry/166780.
- ↑ Dallapiccola, B.; Mingarelli, R. (October 1995). "Otofaciocervical syndrome: a sporadic patient supports splitting from the branchio-oto-renal syndrome". Journal of Medical Genetics 32 (10): 816–818. doi:10.1136/jmg.32.10.816. ISSN 0022-2593. PMID 8558563.
- ↑ Rickard, S.; Parker, M.; van't Hoff, W.; Barnicoat, A.; Russell-Eggitt, I.; Winter, R. M.; Bitner-Glindzicz, M. (May 2001). "Oto-facio-cervical (OFC) syndrome is a contiguous gene deletion syndrome involving EYA1: molecular analysis confirms allelism with BOR syndrome and further narrows the Duane syndrome critical region to 1 cM". Human Genetics 108 (5): 398–403. doi:10.1007/s004390100495. ISSN 0340-6717. PMID 11409867. https://pubmed.ncbi.nlm.nih.gov/11409867/.
- ↑ Estefanía, E.; Ramírez-Camacho, R.; Gomar, M.; Trinidad, A.; Arellano, B.; García-Berrocal, J. R.; Verdaguer, J. M.; Vilches, C. (January 2006). "Point mutation of an EYA1-gene splice site in a patient with oto-facio-cervical syndrome". Annals of Human Genetics 70 (Pt 1): 140–144. doi:10.1111/j.1529-8817.2005.00204.x. ISSN 0003-4800. PMID 16441263. https://pubmed.ncbi.nlm.nih.gov/16441263/.
- ↑ Gana, Simone; Valetto, Angelo; Toschi, Benedetta; Sardelli, Irene; Cappelli, Susanna; Peroni, Diego; Bertini, Veronica (2019). "Familial Interstitial 6q23.2 Deletion Including Eya4 Associated With Otofaciocervical Syndrome". Frontiers in Genetics 10: 650. doi:10.3389/fgene.2019.00650. ISSN 1664-8021. PMID 31379922.
- ↑ "OMIM Entry - # 615560 - OTOFACIOCERVICAL SYNDROME 2, WITH T-CELL DEFICIENCY; OTFCS2" (in en-us). https://omim.org/entry/615560#4.
- ↑ Pohl, Esther; Aykut, Ayca; Beleggia, Filippo; Karaca, Emin; Durmaz, Burak; Keupp, Katharina; Arslan, Esra; Palamar, Melis et al. (November 2013). "A hypofunctional PAX1 mutation causes autosomal recessively inherited otofaciocervical syndrome". Human Genetics 132 (11): 1311–1320. doi:10.1007/s00439-013-1337-9. ISSN 1432-1203. PMID 23851939. https://pubmed.ncbi.nlm.nih.gov/23851939/.
- ↑ Paganini, I.; Sestini, R.; Capone, G. L.; Putignano, A. L.; Contini, E.; Giotti, I.; Gensini, F.; Marozza, A. et al. (December 2017). "A novel PAX1 null homozygous mutation in autosomal recessive otofaciocervical syndrome associated with severe combined immunodeficiency". Clinical Genetics 92 (6): 664–668. doi:10.1111/cge.13085. ISSN 1399-0004. PMID 28657137. https://pubmed.ncbi.nlm.nih.gov/28657137/.
- ↑ Patil, Siddaramappa Jagdish; Das Bhowmik, Aneek; Bhat, Venkatraman; Satidevi Vineeth, Venugopal; Vasudevamurthy, Rashmi; Dalal, Ashwin (May 2018). "Autosomal recessive otofaciocervical syndrome type 2 with novel homozygous small insertion in PAX1 gene". American Journal of Medical Genetics. Part A 176 (5): 1200–1206. doi:10.1002/ajmg.a.38659. ISSN 1552-4833. PMID 29681087. https://pubmed.ncbi.nlm.nih.gov/29681087/.
- ↑ Yamazaki, Yasuhiro; Urrutia, Raul; Franco, Luis M.; Giliani, Silvia; Zhang, Kejian; Alazami, Anas M.; Dobbs, A. Kerry; Masneri, Stefania et al. (2020-02-28). "PAX1 is essential for development and function of the human thymus". Science Immunology 5 (44): eaax1036. doi:10.1126/sciimmunol.aax1036. ISSN 2470-9468. PMID 32111619.
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