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GTR Home > Tests > Skeletal dysplasia ciliopathy Comprehensive panel

Indication

This is a clinical test intended for Help: Diagnosis, Mutation Confirmation

Clinical summary

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Imported from OMIM

Axial spondylometaphyseal dysplasia (SMDAX) is characterized by postnatal growth failure, including rhizomelic short stature in early childhood that evolves into short trunk in late childhood, and thoracic hypoplasia that may cause mild to moderate respiratory problems in the neonatal period and later susceptibility to airway infection. Impaired visual acuity comes to medical attention in early life and vision rapidly deteriorates. Retinal changes are diagnosed as retinitis pigmentosa or pigmentary retinal degeneration on funduscopic examination and as cone-rod dystrophy on electroretinogram. Radiologic hallmarks include short ribs with flared and cupped anterior ends, mild spondylar dysplasia, lacy iliac crests, and metaphyseal irregularities essentially confined to the proximal femora (summary by Suzuki et al., 2011).

Clinical features

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Imported from Human Phenotype Ontology (HPO)

  • Nystagmus
  • Optic atrophy
  • Retinal degeneration
  • Scoliosis
  • Splenomegaly
  • Short stature
  • Reduced sperm motility
  • Narrow chest
  • Narrow greater sciatic notch
  • Recurrent pneumonia
  • Short femoral neck
  • Proximal femoral metaphyseal irregularity
  • Thoracic hypoplasia
  • Platyspondyly
  • Anterior rib cupping
  • Disproportionate short-trunk short stature
  • Rhizomelia
  • Restrictive ventilatory defect
  • Cone-rod dystrophy
  • Rod-cone dystrophy
  • Spondylometaphyseal dysplasia
  • Coxa vara
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Conditions tested

Target population

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Individuals whose clinical findings are consistent with the specific disorder.

Citations

Not provided

Clinical validity

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Not provided

Clinical utility

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Not provided

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