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GTR Home > Tests > Brittle cornea syndrome 1, 229200, Autosomal recessive; BCS1 (Brittle cornea syndrome) (ZNF469 gene) (Sequence Analysis-All Coding Exons) (Postnatal)

Indication

This is a clinical test intended for Help: Diagnosis

Clinical summary

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Imported from OMIM

Brittle cornea syndrome (BCS) is characterized by blue sclerae, corneal rupture after minor trauma, keratoconus or keratoglobus, hyperelasticity of the skin, and hypermobility of the joints (Al-Hussain et al., 2004). It is classified as a form of Ehlers-Danlos syndrome (Malfait et al., 2017). Genetic Heterogeneity of Brittle Cornea Syndrome Brittle cornea syndrome-2 (BCS2; 614170) is caused by mutation in the PRDM5 gene (614161) on chromosome 4q27.

Clinical features

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Imported from Human Phenotype Ontology (HPO)

  • Dentinogenesis imperfecta
  • Congenital hip dislocation
  • Keratoconus
  • Mitral valve prolapse
  • Myopia
  • Scoliosis
  • Spondylolisthesis
  • Red hair
  • Blue sclerae
  • Epicanthus
  • Decreased corneal thickness
  • Hearing impairment
  • Disproportionate tall stature
  • Molluscoid pseudotumors
  • Joint hypermobility
  • Abnormal cornea morphology
  • Palmoplantar cutis laxa
  • Macrocephaly
  • Visual loss
  • Keratoglobus
  • Atypical scarring of skin
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Conditions tested

Target population

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Brittle cornea syndrome 1, 229200, Autosomal recessive; BCS1 (diagnosis/ clinical suspition/ etiology investigation/ classification)

Citations

Not provided

Clinical validity

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Not provided

Clinical utility

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Not provided

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