NEK9-related lethal skeletal dysplasia

NEK9-related lethal skeletal dysplasia is a rare, lethal, primary bone dysplasia characterized by fetal akinesia, multiple contractures, shortening of all long bones, short, broad ribs, narrow chest and thorax, pulmonary hypoplasia and a protruding abdomen. Short bowed femurs may also be associated.

Also known as: LCCS10, lethal congenital contracture syndrome 10, lethal congenital contracture syndrome type 10, lethal skeletal dysplasia-fetal akinesia-contractures-thoracic dysplasia-pulmonary hypoplasia syndrome

1 clinical trial for this condition and its sub-types, 0 tagged with NEK9-related lethal skeletal dysplasia itself.