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Horizontal gaze palsy with progressive scoliosis

Disease definition

Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare congenital autosomal recessive disease, presenting in children and adolescents, and characterized by progressive scoliosis along with the absence of conjugate horizontal eye movements and associated with failure of the somatosensory and corticospinal neuronal tracts to decussate in the medulla.

ORPHA:2744

Classification level: Disorder
  • Synonym(s):
    • HGPPS
    • Progressive external ophthalmoplegia and scoliosis
  • Prevalence: Unknown
  • Inheritance: -
  • Age of onset: Childhood, Adolescent
  • ICD-10: H49.4
  • OMIM: 607313  617542
  • UMLS: C1846496
  • MeSH: -
  • GARD: 12682
  • MedDRA: -
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