Horizontal gaze palsy with progressive scoliosis

Orpha code: 2744OMIM code: 607313

Definicja

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.

Disease data
Klasyfikacja

Disease

Synonimy
HGPPS
Postępująca zewnętrzna oftalmoplegia i skolioza
HGPPS
Progressive external ophthalmoplegia and scoliosis
Kod ORPHA
2744
Kod OMIM
607313
Kod ICD10
H49.4
Kod ICD11
9C83.00

No additional description.

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