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Horizontal gaze palsy with progressive scoliosis

MedGen UID:
1683615
•Concept ID:
C4760875
•
Disease or Syndrome
Synonyms: Familial Horizontal Gaze Palsy with Progressive Scoliosis; Familial Idiopathic Scoliosis Associated with Congenital Encephalopathy; Familial Infantile Scoliosis Associated with Bilateral Paralysis of Conjugate Gaze; gaze palsy, familial horizontal, with progressive scoliosis; Hgpps; HGPPS, Horizontal Gaze Palsy with Progressive Scoliosis; Horizontal Gaze Palsy with Progressive Scoliosis; Ophthalmoplegia, Progressive External, and Scoliosis
 
Monarch Initiative: MONDO:0011810
OMIM®: 607313
OMIM® Phenotypic series: PS607313
Orphanet: ORPHA2744

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. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHorizontal gaze palsy with progressive scoliosis

Recent clinical studies

Etiology

Horizontal gaze palsy with progressive scoliosis: Further expanding the ROBO3 spectrum.
Günbey C, Çavdarlı B, Göçmen R, Yazıcı M, Temuçin ÇM, Özdemir Ö, Çırak S, Haliloğlu G
Ann Clin Transl Neurol 2024 Aug;11(8):2088-2099. Epub 2024 Jun 21 doi: 10.1002/acn3.52129. PMID: 39030736Free PMC Article
Early onset horizontal gaze palsy and progressive scoliosis due to a noncanonical splicing-site variant and a missense variant in the ROBO3 gene.
Yi S, Qin Z, Zhou X, Chen J, Yi S, Chen Q, Huang L, Zhang Q, Chen B, Luo J
Mol Genet Genomic Med 2023 Sep;11(9):e2215. Epub 2023 Jun 18 doi: 10.1002/mgg3.2215. PMID: 37330975Free PMC Article
Clinical and genetic characteristics of Chinese patients with congenital cranial dysinnervation disorders.
Jia H, Ma Q, Liang Y, Wang D, Chang Q, Zhao B, Zhang Z, Liang J, Song J, Wang Y, Zhang R, Tu Z, Jiao Y
Orphanet J Rare Dis 2022 Dec 9;17(1):431. doi: 10.1186/s13023-022-02582-5. PMID: 36494820Free PMC Article
The ECEL1-related strabismus phenotype is consistent with congenital cranial dysinnervation disorder.
Khan AO, Shaheen R, Alkuraya FS
J AAPOS 2014 Aug;18(4):362-7. doi: 10.1016/j.jaapos.2014.03.005. PMID: 25173900
Imaging findings in congenital cranial dysinnervation disorders.
Ferreira RM, Amaral LL, Gonçalves MV, Lin K
Top Magn Reson Imaging 2011 Dec;22(6):283-94. doi: 10.1097/RMR.0000000000000009. PMID: 24132067

Diagnosis

Horizontal gaze palsy with progressive scoliosis: Further expanding the ROBO3 spectrum.
Günbey C, Çavdarlı B, Göçmen R, Yazıcı M, Temuçin ÇM, Özdemir Ö, Çırak S, Haliloğlu G
Ann Clin Transl Neurol 2024 Aug;11(8):2088-2099. Epub 2024 Jun 21 doi: 10.1002/acn3.52129. PMID: 39030736Free PMC Article
Horizontal gaze palsy with progressive scoliosis.
Dhiman R, Gandepalli L, Rathod A, Badkhane S, Phuljhele S, Saxena R
J AAPOS 2024 Feb;28(1):103822. Epub 2024 Jan 24 doi: 10.1016/j.jaapos.2023.09.012. PMID: 38272175
A novel intronic variant in ROBO3 associated with horizontal gaze palsy with progressive scoliosis: case report and literature review.
Sim B, Ng JWZ, Sim DY, Goh J, Kam S, Teo JX, Lim WW, Lieviant J, Lim WK, Lim SA, Tang PH, Ling S, Ng SWL, Roca X, Jamuar SS
J AAPOS 2023 Dec;27(6):359-363. Epub 2023 Nov 4 doi: 10.1016/j.jaapos.2023.08.017. PMID: 37931836
Early onset horizontal gaze palsy and progressive scoliosis due to a noncanonical splicing-site variant and a missense variant in the ROBO3 gene.
Yi S, Qin Z, Zhou X, Chen J, Yi S, Chen Q, Huang L, Zhang Q, Chen B, Luo J
Mol Genet Genomic Med 2023 Sep;11(9):e2215. Epub 2023 Jun 18 doi: 10.1002/mgg3.2215. PMID: 37330975Free PMC Article
Horizontal Gaze Palsy with Progressive Scoliosis in an Infant Diagnosed Before Developing Scoliosis: MRI and DTI Findings.
Ucan B, Kaynak Sahap S, Bako D, Tıras ST, Ceylaner S, Fitöz S
Klin Padiatr 2022 Jan;234(1):52-55. Epub 2021 Jul 20 doi: 10.1055/a-1478-4528. PMID: 34284498

Prognosis

Horizontal gaze palsy with progressive scoliosis: Further expanding the ROBO3 spectrum.
Günbey C, Çavdarlı B, Göçmen R, Yazıcı M, Temuçin ÇM, Özdemir Ö, Çırak S, Haliloğlu G
Ann Clin Transl Neurol 2024 Aug;11(8):2088-2099. Epub 2024 Jun 21 doi: 10.1002/acn3.52129. PMID: 39030736Free PMC Article
A novel homozygous frameshift mutation in the DCC gene in a Pakistani family with autosomal recessive horizontal gaze palsy with progressive scoliosis-2 with impaired intellectual development.
Zaka A, Shahzad S, Rao HZ, Hashim Y, Basit S
Am J Med Genet A 2021 Feb;185(2):355-361. Epub 2020 Nov 3 doi: 10.1002/ajmg.a.61952. PMID: 33141514
DCC mutation update: Congenital mirror movements, isolated agenesis of the corpus callosum, and developmental split brain syndrome.
Marsh APL, Edwards TJ, Galea C, Cooper HM, Engle EC, Jamuar SS, Méneret A, Moutard ML, Nava C, Rastetter A, Robinson G, Rouleau G, Roze E, Spencer-Smith M, Trouillard O, Billette de Villemeur T, Walsh CA, Yu TW; IRC5 Consortium, Heron D, Sherr EH, Richards LJ, Depienne C, Leventer RJ, Lockhart PJ
Hum Mutat 2018 Jan;39(1):23-39. Epub 2017 Nov 11 doi: 10.1002/humu.23361. PMID: 29068161Free PMC Article
Functional MRI, DTI and neurophysiology in horizontal gaze palsy with progressive scoliosis.
Haller S, Wetzel SG, Lütschg J
Neuroradiology 2008 May;50(5):453-9. doi: 10.1007/s00234-007-0359-1. PMID: 18214457

Clinical prediction guides

A novel homozygous frameshift mutation in the DCC gene in a Pakistani family with autosomal recessive horizontal gaze palsy with progressive scoliosis-2 with impaired intellectual development.
Zaka A, Shahzad S, Rao HZ, Hashim Y, Basit S
Am J Med Genet A 2021 Feb;185(2):355-361. Epub 2020 Nov 3 doi: 10.1002/ajmg.a.61952. PMID: 33141514
DCC mutation update: Congenital mirror movements, isolated agenesis of the corpus callosum, and developmental split brain syndrome.
Marsh APL, Edwards TJ, Galea C, Cooper HM, Engle EC, Jamuar SS, Méneret A, Moutard ML, Nava C, Rastetter A, Robinson G, Rouleau G, Roze E, Spencer-Smith M, Trouillard O, Billette de Villemeur T, Walsh CA, Yu TW; IRC5 Consortium, Heron D, Sherr EH, Richards LJ, Depienne C, Leventer RJ, Lockhart PJ
Hum Mutat 2018 Jan;39(1):23-39. Epub 2017 Nov 11 doi: 10.1002/humu.23361. PMID: 29068161Free PMC Article
Horizontal gaze palsy with progressive scoliosis in a Moroccan family.
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
Diffusion tensor imaging in horizontal gaze palsy with progressive scoliosis.
Avadhani A, Ilayaraja V, Shetty AP, Rajasekaran S
Magn Reson Imaging 2010 Feb;28(2):212-6. Epub 2010 Jan 13 doi: 10.1016/j.mri.2009.10.004. PMID: 20071118
Familial horizontal gaze palsy with progressive scoliosis maps to chromosome 11q23-25.
Jen J, Coulin CJ, Bosley TM, Salih MA, Sabatti C, Nelson SF, Baloh RW
Neurology 2002 Aug 13;59(3):432-5. doi: 10.1212/wnl.59.3.432. PMID: 12177379

Recent systematic reviews

Mutation in ROBO3 Gene in Patients with Horizontal Gaze Palsy with Progressive Scoliosis Syndrome: A Systematic Review.
Pinero-Pinto E, Pérez-Cabezas V, Tous-Rivera C, Sánchez-González JM, Ruiz-Molinero C, Jiménez-Rejano JJ, Benítez-Lugo ML, Sánchez-González MC
Int J Environ Res Public Health 2020 Jun 22;17(12) doi: 10.3390/ijerph17124467. PMID: 32580277Free PMC Article

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