Definition
Bohring-Opitz Syndrome (BOS) is a congenital genetic condition characterized by intrauterine growth restriction (IUGR) and failure to thrive, with feedings difficulties and severe developmental delay. Distinctive facial features and typical BOS-posture are described in different expression and may include micro and/or trigonocephaly, naevus flammeus, prominent eyes, puffy cheeks as well as flexion at the elbows and wrist and reduced muscle tension of the body (trunk) with hypertonia (increased tension of the muscles) of the extremities. ( → read more about clinical features and symptoms of Bohring-Opitz Syndrome).
Prevalence
Bohring-Opitz Syndrome is an ultra-rare disease. Only 46 cases are reported in scientific literature[1]. However, our family support group unites approximately 350 families from 60 countries worldwide, and to date (May 2024) there are about 70 participants with Bohring-Opitz Syndrome enrolled completely in the BOS/ASXL Patient registry.
History
Bohring et al. (1999) presented four patients who had similar features to two cases that had already been reported by Oberklaid et al. (1975) and Addor et al. (1995). Bohring suggested that these six children either represented the severe end of the clinical spectrum of ‘Opitz trigonocephaly C syndrome’ or comprised a separate entity. Since then, there have been further reports of individual patients with similar findings. The terms ‘Bohring’, ‘Bohring-Opitz’ and ‘C-like syndrome’ have all been used to describe this condition (Greenhalgh et al. 2003). Because Oberklaid et al. (1975) reported another case, there is also the name ‘Oberklaid-Danks-Syndrome’ for ‘Bohring-Opitz-Syndrome’ (Hasting et al. 2011).
Life expectancy
In the early published literature, it was hypothesized that the infant mortality is extremely high, with 10 out of 13 children died in early childhood (Bohring et al. 206). Now life expectancy is still concerning but more hopeful. According to recent publications, 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). The most common causes of death are heart problems, abnormalities of the throat and airways that cause pauses in breathing (obstructive apnea), and lung infections (Medline Plus 2024).
[1] Orphanet Report Series – Prevalence of rare diseases: Bibliographic data – November 2023 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf
Bohring-Opitz Syndrome 