Bjornstad syndrome
Bjrnstad syndrome is characterized by congenital sensorineural hearing loss and pili torti. Less than fifty cases have been reported so far. 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. Bjrnstad syndrome is transmitted as an autosomal recessive condition. It is caused by mutations in the BCS1L gene. Mutations in this gene also cause GRACILE syndrome.
MONDO:0006025
autosomal recessive disease
is_a
MONDO:0044970
mitochondrial disease
is_a
BJS
related
Bjornstad syndrome
exact
Björnstad Syndrome
exact
PTD
related
PTND
related
deafness and pili torti, Bjornstad type
related
deafness-pili torti-hypogonadism syndrome
exact
pili torti-sensorineural hearing loss
related
SPAC644.07