Björnstad syndrome

Björnstad syndrome
Classification and external resources
Specialty	Lua error in Module:Wikidata at line 446: attempt to index field 'wikibase' (a nil value).
OMIM	262000
DiseasesDB	33516
Patient UK	Björnstad syndrome
	[[[d:Lua error in Module:Wikidata at line 863: attempt to index field 'wikibase' (a nil value).\|edit on Wikidata]]]

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.
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This genetic disorder article is a stub. You can help Wikipedia by expanding it.

v t e 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

v t e 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

Björnstad syndrome
Classification and external resources
Specialty	Lua error in Module:Wikidata at line 446: attempt to index field 'wikibase' (a nil value).
OMIM	262000
DiseasesDB	33516
Patient UK	Björnstad syndrome
[[[d:Lua error in Module:Wikidata at line 863: attempt to index field 'wikibase' (a nil value).\|edit on Wikidata]]]