Peters plus syndrome

Peters plus syndrome is a rare genetic condition characterized by a group of developmental abnormalities. It primarily affects the eyes with features such as Peters anomaly and other anomalies in the front parts of the eye. In addition, many people with this condition may have distinctive facial features, including an upper lip shaped like a cupid's bow and short eye openings (palpebral fissures). The condition may also be accompanied by abnormalities in the limbs, such as short stature, shortened upper arms (rhizomelia), and short fingers (brachydactyly). Other features can include cleft lip/palate and developmental delay or intellectual disability. Some individuals might also experience problems with the heart, kidneys, or thyroid, although these can vary among people with the condition.

People with Peters plus syndrome often show a range of symptoms. Common eye problems include Peters anomaly and other abnormalities of the front parts of the eye. Many also have short limbs, including features such as shortened upper arms and fingers. Distinct facial features like a cupid’s bow upper lip and short eye openings are noted in many cases. Some individuals may also have a cleft lip or palate and varying degrees of developmental delay or intellectual disability. In some cases, heart defects, kidney issues, or problems with the thyroid are also seen.

Peters plus syndrome is caused by changes in genes inherited in an autosomal recessive pattern, which means a child must inherit the altered gene from both parents to develop the condition. A known gene involved in this condition is B3GLCT. This gene change affects multiple organs and systems during development, leading to the range of symptoms seen in this syndrome.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about current research is currently limited for this condition.