Horizontal gaze palsy with progressive scoliosis

Orpha code: 2744OMIM code: 607313

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.

Disease data
Classification

Disease

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

No additional description.

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