Bjornstad syndrome

Description: Bjornstad syndrome is a rare disorder characterized by abnormal hair and hearing problems. Affected individuals have a condition known as pili torti, which means "twisted hair," so named because the strands appear twisted when viewed under a microscope. The ...1

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Symptoms of Bjornstad syndrome

Symptoms: The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. Signs and Symptoms

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Genetics of Bjornstad syndrome

Genetic Changes: Bjornstad syndrome is caused by mutations in the BCS1L gene. The protein produced from this gene is found in cell structures called mitochondria , which convert the energy from food into a form that cells can use. In mitochondria ...2

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Names and Terminology

Other Names for This Condition

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  1. Source: GHR (NLM/NIH): condition/ bjornstad-syndrome
  2. ibid.

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