Horizontal gaze palsy with progressive scoliosis

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Disease Overview

Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare disorder that affects vision and also causes an abnormal curvature of the spine (scoliosis). People with this condition are unable to move their eyes side-to-side (horizontally) and must turn their head instead of moving their eyes to track moving objects. Scoliosis develops in infancy or childhood and worsens over time. Scoliosis can be painful and may interfere with movement so it is often treated with surgery early in life. HGPPS is caused by changes (mutations) in the ROBO3 gene and is inherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person.[9290]


Synonyms

  • Progressive external ophthalmoplegia and scoliosis
  • HGPPS
  • Gaze palsy, horizontal, with progressive scoliosis
  • Gaze Palsy, Familial Horizontal, With Progressive Scoliosis

For more information, visit GARD.

National Organization for Rare Disorders