Bohring-Opitz syndrome (BOPS)

What is Bohring-Opitz syndrome (BOPS)?

Bohring-Opitz syndrome is a rare disease which affects multiple parts of the body.

It is mainly characterized by intrauterine growth restriction and failure to thrive following birth.

A port wine stain on the face (nevus flammeus of the face) is also a defining feature of this rare disease.

To date there are just 60 cases recorded globally.

What gene changes cause Bohring-Opitz syndrome (BOPS)?

The syndrome is caused by mutations in the ASXL1 gene.

The condition is usually the result of a de novo mutation. Individuals with Bohring-Opitz syndrome have not been known to have children of their own, meaning the syndrome is not inherited.

In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation which occurs during the reproductive process.

What are the main symptoms of Bohring-Opitz syndrome (BOPS)?

The main initial symptom of the syndrome includes intrauterine growth restriction. The syndrome presents with a wide variety of symptoms affecting the mental and physical development of an individual.

Developmental delay and severe intellectual disability as well as possible brain malformations are serious symptoms of the condition.

Facial and physical characteristics include a very small head, a red birthmark on the face, widely-spaced eyes, corners of the eyes that point up, protruding eyes, strabismus, high myopia, cleft palate and low set ears rotated backward.

Other unique facial characteristics include a flat nasal bridge, nostrils that open to the front, a characteristic posture that includes slouching shoulders and bent elbows and wrist. Excessive hair growth and low muscle tone are other physical symptoms of the syndrome.

Other health conditions may include seizures, poor feeding and failure to thrive, sleep apnea, heart, kidney and genital abnormalities. Some individuals develop Wilms tumor, a rare kidney cancer in children. Most individuals with Bohring-Opitz syndrome have a shortened life expectancy.

How does someone get tested for Bohring-Opitz syndrome (BOPS)?

The initial testing for Bohring-Opitz syndrome can begin with facial analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the need for further testing. A consultation with a genetic counselor and then a geneticist will follow. 

Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.   

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