Björnstad syndrome

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Björnstad syndrome
Classification and external resources
OMIM 262000
DiseasesDB 33516

Björnstad syndrome is a congenital condition involving deafness and hair abnormalities.

It was first characterized in 1965, in Oslo, by prof. Roar Theodor Bjørnstad (1908–2002).[1]

It has been mapped to BCS1L.[2]

References

  1. ↑ Bjornstad, R. Pili torti and sensory-neural loss of hearing. Proc. 7th Meeting Northern Derm. Soc., Copenhagen May-29, 1965.
  2. ↑ Hinson JT, Fantin VR, Schönberger J, et al. (February 2007). "Missense mutations in the BCS1L gene as a cause of the Björnstad syndrome". N. Engl. J. Med. 356 (8): 809–19. doi:10.1056/NEJMoa055262. PMID 17314340. 


Congenital malformations and deformations of skin appendages (Q84, 757.4–757.5)
Nail disease
Hair disease

M: SKA

anat/phys/devp

noco/cong/tumr, sysi/epon

proc, drug (D10)

Disorders of TCA and ETC
TCA
ETC

M: MET

mt, k, c/g/r/p/y/i, f/h/s/l/o/e, a/u, n, m

k, cgrp/y/i, f/h/s/l/o/e, au, n, m, epon

m (A16/C10), i (k, c/g/r/p/y/i, f/h/s/o/e, a/u, n, m)

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