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GTR Home > Tests > Ectodermal dysplasia panel. 23-gene NGS panel.

Indication

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

Clinical summary

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Imported from OMIM

Bjornstad syndrome (BJS) is an autosomal recessive disorder characterized by sensorineural hearing loss and pili torti. The hearing loss is congenital and of variable severity. Pili torti (twisted hairs), a condition in which the hair shafts are flattened at irregular intervals and twisted 180 degrees from the normal axis, making the hair very brittle, is usually recognized early in childhood (Selvaag, 2000).

Clinical features

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Imported from Human Phenotype Ontology (HPO)

  • Alopecia
  • Anhidrosis
  • Sensorineural hearing impairment
  • Hypogonadism
  • Brittle hair
  • Pili torti
  • Coarse hair
  • Dry hair
  • Intellectual disability
  • Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes
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Inheritance pattern

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Autosomal recessive inheritance

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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