Leptomyelolipoma
MONDO:0017084Leptomyelolipoma is a rare neural tube closure defect characterized by an abnormally low lying conus which is tethered by a lumbosacral lipomatous mass (containing fatty tissue, nerve fibers, meningeal strands and fibrous bands) which engulfs the filum terminale and varying numbers of dorsal and ventral nerve root components, typically producing sensory, motor, bowel and/or bladder dysfunction. Cutaneous stigmata, absent or reduced reflexes and foot defomities (e.g. talipes cavovalgus) are frequently present.
1 clinical trial for this condition and its sub-types.
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Disease
(680)
Nervous system disorder
(231)
Human disease
(14)
Neural tube defect
(11)
Developmental defect during embryogenesis
(8)
Central nervous system malformation
(5)
Disease by body system or component
(0)
Disease by developmental or physiological process
(0)
Disorder of development or morphogenesis
(0)