Other Names for this Disease
- Opitz trigonocephaly-like syndrome
- Bohring syndrome
- BOS syndrome
- C-like syndrome
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intrauterine growth restriction (IUGR), failure to thrive, sleep apnea, developmental delay, hypotonia, flexion of the elbows and wrists, excessive hair growth, Wilm's tumor, microcephaly, brain malformations, and distinctive facial features. The condition is caused by mutations in the ASXL1 gene. The inheritance of Bohring-Opitz syndrome remains unknown, as nearly all cases to date have occurred sporadically.Bohring-Opitz syndrome is a rare genetic condition characterized by
Last updated: 4/12/2016
- What is BOS. Bohring-Opitz Syndrome Foundation, Inc. http://bos-foundation.org/new-page/. Accessed 4/12/2016.
- BOHRING-OPITZ SYNDROME. Online Mendelian Inheritance in Man (OMIM). January 22, 2013; http://www.omim.org/entry/605039.
- Hastings R, et al.. Bohring-Opitz (Oberklaid-Danks) syndrome: clinical study, review of the literature, and discussion of possible pathogenesis. Eur J Hum Genet. 2011 May; 19(5):513-9. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3083618/.
On this page
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Bohring-Opitz syndrome. Click on the link to view a sample search on this topic.