Format

Send to:

Choose Destination

Gaze palsy, familial horizontal, with progressive scoliosis(HGPPS1)

MedGen UID:
339538
Concept ID:
C1846496
Disease or Syndrome
Synonyms: GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, 1; HGPPS1
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
SNOMED CT: Horizontal gaze palsy with progressive scoliosis (702381007); HGPPS - horizontal gaze palsy with progressive scoliosis (702381007); Familial infantile scoliosis associated with bilateral paralysis of conjugate gaze (702381007)
 
Gene (location): ROBO3 (11q24.2)
OMIM®: 607313
Orphanet: ORPHA2744

Definition

HGPPS is an autosomal recessive neurologic disorder characterized by eye movement abnormalities apparent from birth and childhood-onset progressive scoliosis. These features are associated with a developmental malformation of the brainstem including hypoplasia of the pons and cerebellar peduncles and defective decussation of certain neuronal systems. Cognitive function is normal (summary by Bosley et al., 2005). Genetic Heterogeneity of Familial Horizontal Gaze Palsy With Progressive Scoliosis See also HGPPS2 (617542), caused by mutation in the DCC gene (120470) on chromosome 18q21. [from OMIM]

Additional description

From GHR
Horizontal gaze palsy with progressive scoliosis (HGPPS) is a 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). As a result, affected individuals must turn their head instead of moving their eyes to track moving objects. Up-and-down (vertical) eye movements are typically normal.In people with HGPPS, an abnormal side-to-side curvature of the spine develops in infancy or childhood. It tends to be moderate to severe and worsens over time. Because the abnormal spine position can be painful and interfere with movement, it is often treated with surgery early in life.  https://ghr.nlm.nih.gov/condition/horizontal-gaze-palsy-with-progressive-scoliosis

Clinical features

Thoracolumbar scoliosis
MedGen UID:
196671
Concept ID:
C0749379
Disease or Syndrome
Progressive ophthalmoplegia
MedGen UID:
384479
Concept ID:
C2062713
Disease or Syndrome
Horizontal supranuclear gaze palsy
MedGen UID:
870350
Concept ID:
C4024794
Disease or Syndrome
A supranuclear gaze palsy is an inability to look in a horizontal direction as a result of cerebral impairment. There is a loss of the voluntary aspect of eye movements, but, as the brainstem is still intact, all the reflex conjugate eye movements are normal.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVGaze palsy, familial horizontal, with progressive scoliosis
Follow this link to review classifications for Gaze palsy, familial horizontal, with progressive scoliosis in Orphanet.

Recent clinical studies

Diagnosis

Mendes Marques NBPS, Barros SR, Miranda AF, Nobre Cardoso J, Parreira S, Fonseca T, Donaire NM, Campos N
J Neuroophthalmol 2017 Jun;37(2):162-165. doi: 10.1097/WNO.0000000000000455. PMID: 27749773
Rohani M, Almasi M, Soltan Sanjari M
Pediatr Neurol 2016 Nov;64:103-104. Epub 2016 Aug 31 doi: 10.1016/j.pediatrneurol.2016.08.021. PMID: 27682326
Fernández-Vega Cueto A, Rodríguez-Ezcurra JJ, Rodríguez-Maiztegui I
Arch Soc Esp Oftalmol 2016 Dec;91(12):592-595. Epub 2016 Jun 16 doi: 10.1016/j.oftal.2016.05.002. PMID: 27318526
Khan AO, Abu-Amero K
J AAPOS 2014 Aug;18(4):389-91. Epub 2014 Jun 24 doi: 10.1016/j.jaapos.2014.02.011. PMID: 24969490
Handor H, Laghmari M, Hafidi Z, Daoudi R
Orthop Traumatol Surg Res 2014 Apr;100(2):255-7. Epub 2014 Feb 20 doi: 10.1016/j.otsr.2013.08.012. PMID: 24559884

Clinical prediction guides

Handor H, Laghmari M, Hafidi Z, Daoudi R
Orthop Traumatol Surg Res 2014 Apr;100(2):255-7. Epub 2014 Feb 20 doi: 10.1016/j.otsr.2013.08.012. PMID: 24559884

Supplemental Content

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
Support Center