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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
  • ICD-11: 9C83.00
  • OMIM: 607313  617542
  • UMLS: C1846496
  • MeSH: -
  • GARD: 12682
  • MedDRA: -

  A summary on this disease is available in Deutsch (2012) Español (2012) Français (2012) Italiano (2012) Nederlands (2012)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.