Conditions / Syndrome
Bjornstad syndrome
info · Syndrome
A syndrome that is characterized by early onset of hearing loss and hair loss due to pili torti, has_material_basis_in homozygous or compound heterozygous mutation in the BCS1L gene on chromosome 2q35.
Signs and symptoms
- Anhidrosis
- Alopecia
- Sensorineural hearing impairment
- Pili torti
- Brittle hair
- Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes
- Coarse hair
- Dry hair
- Intellectual disability
- Hypogonadism
Also known as: BJS; PTD; deafness-pili torti-hypogonadism syndrome