Diagnosis

Clinical Diagnosis

The delineation of Bohring-Opitz Syndrome (BOS) was made by Bohring on the basis of a complex phenotype characterized by IUGR (Intrauterine growth restriction), feeding problems, severe intellectual and motor disability, trigonocephaly (forehead have a triangular shape), facial dysmorphisms, frontal nevus flammeus, exophthalmos (bulging eyeball, prominent eyes), cleft palate, flexion of elbows and wrists, hirsutism (excess body hair) (Scarselli et al. 2012). Additional characteristics are severe failure to thrive, retinal abnormalities, hypertelorism (large distance between the eyes), cleft lip and/or palate and death often early in childhood (Bohring et al. 2012). Members of the Bohring-Opitz Facebook group has often stated that BOS children look very alike, which is confirmed by Scarselli et al. (2012) when he noted that BOS children have extremely similar clinical phenotype at birth with characteristic face, frontal nevus flammeus, severe myopia[1] (near-sightedness) and BOS “attitude”. For more details about phenotype and symptoms please take a look to our overview Symptoms[2]. and the clinical features of BOS. The infant mortality is high. 40% of the reported BOS children passed away before reaching 6 years of age  and 26% with 11 deaths at less than 1 year-of-age (Russell et al. 2015). A few (5) patients has now reached adulthood (Hoischen et al. 2011, FB group 2013).

Testing Bohring-Opitz syndrome 

Prior to 2011 there was no DNA test to confirm a diagnosis of Bohring-Opitz Syndrome.  Geneticists relied on making a clinical diagnosis by recognizing the distinguishable physical characteristics in the appearance of the child, and with the aid of clinical research. Now it is possible to confirm the BOS diagnosis with a genetic DNA test (whole exome sequencing, or whole genome decoding).

Researchers at the Radboud University Nijmegen medical centre found with next generation sequencing a mutation in ASXL1 gene one genetic cause of Bohring-Opitz-Syndrome. (Radboud UMC)

A selection of diagnostics labs for clinical testing ASXL1:

Fulgent Diagnostics provides a wide array of genetic testing ranging from 4,600+ single gene tests, 170+ preset panels, rearrangement testing, and our All-in-One reflex test. Most importantly, Fulgent Diagnostics provides flexibility.  You can add a gene to a current panel or create your own personalized test.  We tailor our tests to your unique requirements at the most competitive pricing available compared to any CLIA lab in the industry. You can search for a gene by the “gene name” or browse our tests by using the “category” drop-down or simply scroll down the lists of preset panels.

Radboud University Medical Center – Genome Diagnostic

GeneDx specializes in genetic testing for rare hereditary disorders. Our mission is to make clinical testing available to people with rare genetic conditions and their families.


[1] Andrew R.H. Simpson, Caspar E.A. Gibbon, Anthony G. Quinn, Peter D. Turnpenny: Infantile high myopia in Bohring-Opitz syndrome, Journal of American Association for Pediatric Ophthalmology and Strabismus, Volume 11, Issue 5, October 2007, Pages 524–525

[2] https://bohring-opitz.org/about/list-of-symptoms/ 22. March 2015