Pierre Robin syndrome is a condition in which the jaw bone or mandible is small. The downward position of the tongue may lead to breathing difficulties and there may be a high arched or cleft palate resulting in feeding problems. The jaw continues to grow after birth and the condition improves with age. Other features include cardiovascular and lung conditions, such as benign heart murmurs, high blood pressure in the arteries of the lungs (pulmonary hypertension), and narrowing of the opening between the lung artery and the right ventricle of the heart (pulmonary stenosis). Abnormalities of the musculoskeletal system, including those in the arms, legs, feet, and vertebral column, are also common. Inflammation of the middle ear (otitis media) occurs in about 80% of individuals who are affected. Eye (ocular) defects occur in about 10% to 30% of cases.
Males and females are affected in equal numbers. Pierre Robin may occur alone, or in conjunction with other syndromes. When it occurs isolation, it is nearly always a sporadic (spontaneous or random) event, although there may be an inherited basis for Pierre Robin syndrome in some instances. When it occurs in isolation, Pierre Robin syndrome may follow an autosomal recessive inheritance pattern.