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Otofaciocervical syndrome

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Medical condition
Otofaciocervical syndrome
Other namesFars Chlupackova syndrome
SpecialtyMedical genetics
CausesGenetic mutation
Risk factorsDepends on the type
PreventionNone
PrognosisBad, nearing medium
FrequencyVery rare, a total of 24 cases (from both types combined) have been reported worldwide.
Deaths-

Otofaciocervical syndrome, also known as Fara Chlupackova syndrome, 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.

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. Only 11 cases have been reported in medical literature.

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. Only 13 cases have been described in medical literature.

References

  1. "Fara Chlupackova syndrome - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Retrieved 2022-06-04.
  2. RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Fara Chlupackova syndrome". www.orpha.net. Retrieved 2022-06-04.{{cite web}}: CS1 maint: numeric names: authors list (link)
  3. "OMIM Entry - # 166780 - OTOFACIOCERVICAL SYNDROME 1; OTFCS". omim.org. Retrieved 2022-06-04.
  4. 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. PMC 1051709. PMID 8558563.
  5. 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. S2CID 8451069.
  6. 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. S2CID 32921282.
  7. 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. PMC 6656857. PMID 31379922.
  8. "OMIM Entry - # 615560 - OTOFACIOCERVICAL SYNDROME 2, WITH T-CELL DEFICIENCY; OTFCS2". omim.org. Retrieved 2022-06-04.
  9. Pohl, Esther; Aykut, Ayca; Beleggia, Filippo; Karaca, Emin; Durmaz, Burak; Keupp, Katharina; Arslan, Esra; Palamar, Melis; Onay, Melis Palamar; Yigit, Gökhan; Özkinay, Ferda (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. S2CID 54485369.
  10. Paganini, I.; Sestini, R.; Capone, G. L.; Putignano, A. L.; Contini, E.; Giotti, I.; Gensini, F.; Marozza, A.; Barilaro, A.; Porfirio, B.; Papi, L. (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. S2CID 33417887.
  11. 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. S2CID 5050645.
  12. Yamazaki, Yasuhiro; Urrutia, Raul; Franco, Luis M.; Giliani, Silvia; Zhang, Kejian; Alazami, Anas M.; Dobbs, A. Kerry; Masneri, Stefania; Joshi, Avni; Otaizo-Carrasquero, Francisco; Myers, Timothy G. (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. PMC 7189207. PMID 32111619.
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