Segmental spinal dysgenesis

A rare complex congenital spinal anomaly characterized by localized agenesis/dysgenesis of the spine (usually lumbar or thoracolumbar spine), kypho-scoliotic deformity (including severe congenital kyphosis or kyphoscoliosis) and focal abnormalities of the underlying spinal cord and nerve roots. Typically, there is segmental absence or malformation of the spinal cord characterized by normal upper spinal cord and significantly abnormal (thinned or even barely perceptible) affected cord segment without nerve roots, and a thickened, bulky distal cord. Closed spinal dysraphism may be present. Majority of the affected individuals present with neurogenic bladder (sometimes with vesicoureteral reflux), severe motor impairment (spastic paraparesis/paraplegia), reduced or absent tendon reflexes and severely hypotrophied and deformed lower limbs. In some patients clonus, hypotonia, clubfoot, horseshoe kidney and bilateral hip dislocation were reported.

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

Orphanet records no gene directly on this code.

No prevalence record in this release.

Orphanet has no HPO annotation for this code in this release.

• Orphanet page: orpha.net/en/disease/detail/656126
• This record as JSON: /data/d/656126.json