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GTR Home > Tests > Glaucoma (Advance)

Indication

This is a clinical test intended for Help: Diagnosis

Clinical summary

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Imported from GeneReviews

Fibrodysplasia ossificans progressiva (FOP) is characterized by congenital bilateral hallux valgus malformations and early-onset heterotopic ossification, which may be spontaneous or precipitated by trauma including intramuscular vaccinations. Painful, recurrent soft-tissue swellings (flare-ups) may precede localized heterotopic ossification. Heterotopic ossification can occur at any location, but typically affects regions in close proximity to the axial skeleton in the early/mild stages, before progressing to the appendicular skeleton. This can lead to restriction of movement as a result of ossification impacting joint mobility. Problems with swallowing and speaking can occur with ossification affecting the jaw, head, and neck, and restriction of the airway and breathing may lead to thoracic insufficiency syndrome.

Clinical features

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Imported from Human Phenotype Ontology (HPO)

  • Alopecia
  • Hallux valgus
  • Hamartoma
  • Conductive hearing impairment
  • Sensorineural hearing loss disorder
  • Intellectual disability, mild
  • Respiratory insufficiency
  • Scoliosis
  • Respiratory failure
  • Basal ganglia calcification
  • Widely spaced teeth
  • Broad femoral neck
  • Metaphyseal widening
  • Short 1st metacarpal
  • Clinodactyly of the 5th finger
  • Progressive cervical vertebral spine fusion
  • Small cervical vertebral bodies
  • Short hallux
  • Intellectual disability
  • Ectopic ossification in ligament tissue
  • Ectopic ossification in tendon tissue
  • Ectopic ossification in muscle tissue
  • Abnormality of the first metatarsal bone
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Conditions tested

Target population

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Not provided

Clinical validity

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Not provided

Clinical utility

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Not provided

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