Bjornstad syndrome in Adult
Symptoms commonly begin in early childhood or may be present at birth. Sensorineural hearing loss, which is commonly bilateral, is accompanied by pili torti (flattened hair shafts and twists within each shaft). Pili torti affects scalp hair and results in hair that is brittle, fragile, and breaks easily. Hair may be shiny with what has been described as a "spangled appearance," or if the majority of hairs have been broken off, sparse scalp hair is seen. The degree of hair involvement was initially observed by Björnstad to be correlated with degree of hearing loss, and this has subsequently has been confirmed by other investigators.
Q84.1 – Congenital morphological disturbances of hair, not elsewhere classified
67817003 – Pili torti-deafness syndrome
- Isolated, nonsyndromic pili torti – Body hair may also be affected. See congenital pili torti.
- Crandall syndrome – Rare congenital disorder that will present with both pili torti and sensorineural hair loss, but unlike Björnstad syndrome, will also present with hypogonadism due to low levels of luteinizing hormone and growth hormone.
- Menkes syndrome
- Ankyloblepharon-ectodermal dysplasia-cleft lip / palate (AEC)
- Ectrodactyly-ectodermal dysplasia-cleft lip / palate (EEC)
- Bazex-Dupré-Christol syndrome