Bohring–Opitz syndrome

Bohring–Opitz syndrome
Classification and external resources
OMIM 605039

Bohring–Opitz syndrome (BOS) is a medical syndrome characterised by characteristic craniofacial appearance, fixed contractures of the upper limbs, abnormal posture, feeding difficulties, intellectual disability, small size at birth, and failure to thrive.[1] Some of these features are shared with other genetic syndromes.

Genetically, de novo truncating mutations in ASXL1 have been shown to account for approximately 50% of Bohring–Opitz syndrome cases.[2][3]

Bohring-Opitz Syndrome is an extremely rare genetic syndrome. There are fewer than 60 cases in the world. This syndrome is diagnosed by genetic testing and is a mutation in the ASXL1 gene. The leading cause of death is respiratory infections. Children with BOS can have feeding difficulties, recurring respiratory infections, sleep apnea, developmental delay, failure to thrive, abnormal hair density and length, Wilm’s Tumors, brain abnormalities, silent aspiration, and the list goes on. To find out more about Bohring-Opitz Syndrome please visit Bohring-Opitz Syndrome Foudnation.Inc,[4] and Bohring-Opitz Syndrome Support.[5]

Bohring–Opitz syndrome is sometimes also called Oberklaid–Danks syndrome.

References

  1. ↑ Hastings R; Cobben JM; Gillessen-Kaesbach G; et al. (2011). "Bohring–Opitz (Oberklaid–Danks) syndrome: clinical study, review of the literature, and discussion of possible pathogenesis". European Journal of Human Genetics. 19 (5): 513–519. doi:10.1038/ejhg.2010.234.
  2. ↑ Hoischen A; van Bon BW; Rodríguez-Santiago B; et al. (2011). "De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome". Nature Genetics. 43 (8): 729–731. doi:10.1038/ng.868.
  3. ↑ Magini P; Della Monica M; Uzielli ML; et al. (2012). "Two novel patients with Bohring–Opitz syndrome caused by de novo ASXL1 mutations". American Journal of Medical Genetics Part A. 158A (4): 917–921. doi:10.1002/ajmg.a.35265.
  4. ↑ http://www.bos-foundation.org
  5. ↑ https://bohring-opitz.org


This article is issued from Wikipedia - version of the 12/4/2016. The text is available under the Creative Commons Attribution/Share Alike but additional terms may apply for the media files.