NEK9-related lethal skeletal dysplasia
MONDO:0014870NEK9-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
45 clinical trials for this condition and its sub-types.
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Disease
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Musculoskeletal system disorder
(196)
Hereditary disease
(172)
Respiratory system disorder
(127)
Bone disorder
(47)
Human disease
(14)
Developmental defect during embryogenesis
(7)
Skeletal system disorder
(4)
Congenital limb malformation
(3)
Disease of genetic or genomic mechanism
(2)