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.
MONDO:0015929
thoracic malformation
is_a
MONDO:0017436
lethal congenital contracture syndrome
is_a
MONDO:0019691
short rib dysplasia
is_a
LCCS10
exact
lethal congenital contracture syndrome 10
exact
lethal congenital contracture syndrome type 10
exact
lethal skeletal dysplasia-fetal akinesia-contractures-thoracic dysplasia-pulmonary hypoplasia syndrome
exact