Clinical Characteristics

The facial features of individuals with BMP2-related syndrome might be recognisable to trained experts but are not so distinctive to the general public. Many individuals will have a small jaw, cleft palate and airway obstruction (this pattern is called Pierre Robin Sequence), and some might have breathing problems and sleep apnoea. Short stature is common and may be associated with a number of changes in the bones that can be seen on X-rays. Some affected individuals can be born with heart abnormalities, such as structural defects or problems with the rhythm of the heart.

However, we still have a lot to learn about the BMP2-related syndrome.  We need to understand how this condition affects more individuals, so if you have been diagnosed with this condition please contact us.