Björnstad Syndrome

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Yang, C. Björnstad Syndrome. Encyclopedia. Available online: https://encyclopedia.pub/entry/4989 (accessed on 26 September 2026).

Yang C. Björnstad Syndrome. Encyclopedia. Available at: https://encyclopedia.pub/entry/4989. Accessed September 26, 2026.

Yang, Catherine. "Björnstad Syndrome" Encyclopedia, https://encyclopedia.pub/entry/4989 (accessed September 26, 2026).

Yang, C. (2020, December 24). Björnstad Syndrome. In Encyclopedia. https://encyclopedia.pub/entry/4989

Yang, Catherine. "Björnstad Syndrome." Encyclopedia. Web. 24 December, 2020.

Björnstad Syndrome

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/bjornstad-syndrome

Björnstad syndrome is a rare disorder characterized by abnormal hair and hearing problems. Affected individuals have a condition known as pili torti, which means "twisted hair," so named because the strands appear twisted when viewed under a microscope. The hair is brittle and breaks easily, leading to short hair that grows slowly. In Björnstad syndrome, pili torti usually affects only the hair on the head; eyebrows, eyelashes, and hair on other parts of the body are normal. The proportion of hairs affected and the severity of brittleness and breakage can vary. This hair abnormality commonly begins before the age of 2. It may become milder with age, particularly after puberty.

genetic conditions

References

Hinson JT, Fantin VR, Schönberger J, Breivik N, Siem G, McDonough B, Sharma P,Keogh I, Godinho R, Santos F, Esparza A, Nicolau Y, Selvaag E, Cohen BH, HoppelCL, Tranebjaerg L, Eavey RD, Seidman JG, Seidman CE. Missense mutations in theBCS1L gene as a cause of the Björnstad syndrome. N Engl J Med. 2007 Feb22;356(8):809-19.
Loche F, Bayle-Lebey P, Carriere JP, Bonafe JL, Bazex J, Schwarze HP. Pilitorti with congenital deafness (Bjornstad syndrome): a case report. PediatrDermatol. 1999 May-Jun;16(3):220-1.
Richards KA, Mancini AJ. Three members of a family with pili torti andsensorineural hearing loss: the Bjornstad syndrome. J Am Acad Dermatol. 2002Feb;46(2):301-3.
Selvaag E. Pili torti and sensorineural hearing loss. A follow-up ofBjørnstad's original patients and a review of the literature. Eur J Dermatol.2000 Mar;10(2):91-7. Review.
Siddiqi S, Siddiq S, Mansoor A, Oostrik J, Ahmad N, Kazmi SA, Kremer H, Qamar R, Schraders M. Novel mutation in AAA domain of BCS1L causing Bjornstad syndrome.J Hum Genet. 2013 Dec;58(12):819-21. doi: 10.1038/jhg.2013.101.

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Subjects: Genetics & Heredity

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Update Date: 24 Dec 2020

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