NEK9-related lethal skeletal dysplasia

NEK9-related lethal skeletal dysplasia is a rare and severe bone condition. It is characterized by problems that begin before birth, including reduced fetal movement (fetal akinesia) and multiple contractures (joints that are stuck in one position). The condition affects the bones, leading to shortened long bones and bowed femurs in some cases. In addition to these issues, affected individuals have short, broad ribs, a narrow chest and thorax, as well as pulmonary hypoplasia (underdeveloped lungs) and a protruding abdomen. The combination of these features contributes to the severity of the condition.

People with this condition often present with fetal akinesia, multiple joint contractures, and significantly shortened long bones. They may have a narrow chest with a short and broad ribcage, underdeveloped lungs, and in some cases, bowed femurs as well as a protruding abdomen.

This condition is linked to changes in the NEK9 gene. It is a genetic disorder, and the alterations in this gene affect bone development in the fetus, leading to the observed skeletal abnormalities.

Information about treatment is currently limited for this condition.

NEK9-related lethal skeletal dysplasia has a severe course. The condition is considered lethal, which means that the outlook is very poor and affected individuals usually do not survive long after birth.

Information about current research and future directions is currently limited for this condition.