CHRNG-associated hypo-akinesia disorder of prenatal onset

CHRNG-associated hypo-akinesia disorder of prenatal onset is a rare condition that arises from changes in both copies of the CHRNG gene. These changes affect a receptor that is important during early development, leading to reduced fetal movement. This early decrease in movement, known as prenatal hypo-akinesia, can result in a number of physical differences that are seen when a baby is born. The condition displays a broad spectrum of severity. Some individuals may experience more life-threatening manifestations while others have less severe, non-lethal presentations. Common physical findings include joint contractures, webbing of the skin (pterygia), unique facial features, and abnormalities of the spine and chest. The variety in these presentations makes the disorder complex.

People with this condition may show a range of signs. These can include joint contractures (stiff joints), pterygia (webbed skin), distinct facial features, and anomalies in the spine and thoracic (chest) area. The physical findings vary widely in severity, with some cases being life-threatening, while others are less severe.

This condition is caused by biallelic protein-altering variations in the CHRNG gene. The changes in this gene lead to the inactivation of a receptor during early development, reducing fetal movement. The level of movement reduction and timing may contribute to the range of physical features seen after birth.

Information about treatment is currently limited for this condition.

The outlook for people with this condition can vary widely. Some may experience severe, life-threatening symptoms while others may have milder forms. The differences in prognosis are due to variations in fetal movement reduction and the consequent physical changes. Because similar genetic variations can lead to different outcomes, it is difficult to predict the course of the disorder.

Information about research is currently limited for this condition.