Björnstad syndrome
Última actualización 18 Aug 2020
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Björnstad syndrome is a rare disorder characterised 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.
Descripción
Björnstad syndrome is a rare disorder characterised 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.
People with Björnstad syndrome also have hearing problems that become evident in early childhood. The hearing loss, which is caused by changes in the inner ear (sensorineural deafness), can range from mild to severe. Mildly affected individuals may be unable to hear sounds at certain frequencies, while severely affected individuals may not be able to hear at all.
Patrones de herencia
The source lists the following possible inheritance patterns: Autosomal recessive. More than one pattern can apply in different cases.
Related genes
Otros nombres
Bjornstad syndrome
BJS
Deafness and pili torti, Bjornstad type
Pili torti and nerve deafness
Pili torti-deafness syndrome
Pili torti-sensorineural hearing loss
PTD
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Lecturas adicionales y referencias
- Björnstad syndrome; MedlinePlus, National Library of Medicine.
- Hinson JT, Fantin VR, Schonberger J, Breivik N, Siem G, McDonough B, Sharma P, Keogh I, Godinho R, Santos F, Esparza A, Nicolau Y, Selvaag E, Cohen BH, Hoppel CL, Tranebjaerg L, Eavey RD, Seidman JG, Seidman CE. Missense mutations in the BCS1L gene as a cause of the Bjornstad syndrome. N Engl J Med. 2007 Feb 22;356(8):809-19. doi: 10.1056/NEJMoa055262.
- Loche F, Bayle-Lebey P, Carriere JP, Bonafe JL, Bazex J, Schwarze HP. Pili torti with congenital deafness (Bjornstad syndrome): a case report. Pediatr Dermatol. 1999 May-Jun;16(3):220-1. doi: 10.1046/j.1525-1470.1999.00063.x.
- Richards KA, Mancini AJ. Three members of a family with pili torti and sensorineural hearing loss: the Bjornstad syndrome. J Am Acad Dermatol. 2002 Feb;46(2):301-3. doi: 10.1067/mjd.2002.107969.
- Selvaag E. Pili torti and sensorineural hearing loss. A follow-up of Bjornstad's original patients and a review of the literature. Eur J Dermatol. 2000 Mar;10(2):91-7.
- 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. Epub 2013 Oct 31.
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