Bjornstad syndrome
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Description
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 123
Definition
Björnstad syndrome is characterized by congenital sensorineural hearing loss and pili torti.
Epidemiology
Less than fifty cases have been reported so far.
Clinical description
The hearing loss usually becomes evident very early in life, often in the first year. Pili torti, a condition in which the hair shaft is flattened and twisted, makes the hair very brittle and patients develop hair loss in the first two years of life.
Etiology
Björnstad syndrome is caused by mutations in the BCS1L gene. Mutations in this gene also cause GRACILE syndrome (see this term).
Genetic counseling
Björnstad syndrome is transmitted as an autosomal recessive condition.
Visit the Orphanet disease page for more resources.
Source: GARD Last updated on 05-01-20
Symptoms
Symptoms and their Known Frequencies
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