Björnstad syndrome

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

↑ Bjornstad, R. Pili torti and sensory-neural loss of hearing. Proc. 7th Meeting Northern Derm. Soc., Copenhagen May-29, 1965.
↑ 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	Anonychia Leukonychia Pachyonychia congenita/Onychauxis Koilonychia

Hair disease	hypotrichosis/abnormalities: keratin disease Monilethrix IBIDS syndrome Sabinas brittle hair syndrome Pili annulati Pili torti Uncombable hair syndrome Björnstad syndrome Giant axonal neuropathy with curly hair hypertrichosis: Zimmermann–Laband syndrome

Disorders of TCA and ETC

Citric acid cycle	Pyruvate dehydrogenase deficiency Fumarase deficiency

Electron transport chain	Coenzyme Q10 deficiency Björnstad syndrome/GRACILE syndrome Leigh's disease

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