What is Bohring-Opitz Syndrome? Know all about this rarest of rare disease that has seen just 100 patients so far

If you look up Bohring-Opitz Syndrome on Google, the search engine would throw up just 31,900 results with less than 500 news articles related to this disease. This is just to show how rarest of the rare this syndrome is. While medical science has achieved new heights of development, there are still several mysteries that remain out of the ambit of the current knowledge paradigm. Bohring-Opitz Syndrome is exactly that disease, which is still in its discovery phase. With less than 100 patients confirmed so far, Bohring-Opitz Syndrome has yet not gained that kind of currency to be part of normal public discourse. Hence, April 6 is marked as the Bohring-Opitz Syndrome Awareness Day. The idea is to identify the issue so that the world can progress towards its resolution. Here’s all you must know about Bohring-Opitz Syndrome:

A congenital disease, Bohring-Opitz Syndrome was first described in the year 1999, a Nature report says. At that time, four patients were diagnosed with Bohring-Opitz Syndrome. The Nature report says that the main characteristic of this disease is ‘intrauterine growth retardation’. In simple terms, this means that a just-born baby will face a host of issues such as feeding troubles, overall growth and a specific postural defect with is known as Bohring-Opitz Syndrome posture.

Researchers have said that the reason behind the BOS posture in babies is because the shoulders of the patients are rotated internally. Such patients may also see deviation in wrists and other joints as well.

Apart from the difficulties that are very visible, the Bohring-Opitz Syndrome also impacts other critical organs such as the brain, heart and eyes. The Nature report says that babies born with Bohring-Opitz Syndrome suffer urinary tract infections also. The distinct facial features are also one of the major characteristics of Bohring-Opitz Syndrome.

There is a high mortality rate among kids born with Bohring-Opitz Syndrome. The Nature report says that as many as 40 per cent of the patients born with Bohring-Opitz Syndrome die early due to several infections attacking the body.

Even if the patient survives the early childhood days, issues such as feeding difficulties. Some patients have also reported other problems such as Type 1 diabetes, sleep apnea among other things. But the Nature report says that it can’t be a general pattern for Bohring-Opitz Syndrome patients.

The most striking aspect of Bohring-Opitz Syndrome is that so far science has not been able to find out the exact cause and inheritance of Bohring-Opitz Syndrome.

Most of the cases have sporadic patterns and no conclusive link has been established so far. Researchers are still working to find out if Bohring-Opitz Syndrome occurs in babies due to dominant mutation or it is a recessive disorder.