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Bjornstad Syndrome

Björnstad syndrome

Bjornstad syndrome is a rare autosomal recessive genetic disorder characterized by brittle and fragile short hair (known as pili torti) and hearing loss that appear in the first several years of life. The disease stems from mutations in the BCS1L proteins that are responsible for mitochondrial function. Additional findings are hypogonadism and mental retardation. The diagnosis can be made based on clinical findings, a positive family history, and genetic studies that confirm the specific mutation.


Initially described 50 years ago, Bjornstad syndrome (BS) is a rare genetic disorder that arises due to mutations in BCS1L proteins that play an essential role in mitochondrial function [1] [2] [3] [4]. The location of genes that code for these proteins was subsequently identified on chromosome 2 and an autosomal recessive pattern of inheritance was established [1] [2] [3]. Very few cases of BS have been described in the literature. The clinical presentation is centered around two components - pili torti and hearing loss [3] [5] [6]. Pili torti (denoting the twisting of hair around their axis) is a term used to illustrate the appearance of short and brittle hair (without any pigment) that occurs as a result of the previously mentioned mutations, consequently leading to hair loss in the first few years of life [1] [5] [6]. For some reason, the hair on the head is principally affected, whereas the other parts of the body (including the face) are spared. Conversely, hearing loss is congenital in nature and develops by three years in the majority of cases [1] [5]. The severity of hearing impairment may be mild, moderate, or severe enough to lead to deafness [1] [3]. Isolated studies have reported mental retardation and hypogonadism as additional signs of BS [5].

Male Hypogonadism
  • Underdevelopment of the ovaries of affected females or the testes of affected males (hypogonadism) has occurred in association with Björnstad syndrome.[rarediseases.org]
  • Consult new chapters covering Ultrasound, Innate Immunity, Adaptive Immunity, Deposition and Clearance, Ventilator-Associated Pneumonia.[books.google.com]
  • A 9-month-old boy presented with the complaints of loose motion, vomiting and difficulty in breathing. His scalp hairs were thin, brittle, and sparse and were of differing lengths with twisted appearance.[ncbi.nlm.nih.gov]
  • Abstract A 9-month-old boy presented with the complaints of loose motion, vomiting and difficulty in breathing. His scalp hairs were thin, brittle, and sparse and were of differing lengths with twisted appearance.[link.springer.com]
  • QTc 64 While we still recommend the simple preventive measures of QT drug avoidance, electrolyte/hydration replenishment particularly in the setting of vomiting and diarrheal illnesses where hypokaliemia could occur, and use of antipyretics to lower fever[academic.oup.com]
  • 5221 Email: info@agbell.org Internet: Better Hearing Institute 1444 I Street NW Suite 700 Washington, D.C. 20005 United States Tel: (202)449-1100 Fax: (703)684-6048 Tel: (800)327-9355 Email: mail@betterhearing.org Internet: NIH/NationaI Institute of Arthritis[healthmedicinet.com]
  • 5221 Email: info@agbell.org Internet: Better Hearing Institute 1444 I Street NW Suite 700 Washington, D.C. 20005 United States Tel: (202)449-1100 Fax: (703)684-6048 Tel: (800)327-9355 Email: mail@betterhearing.org Internet: NIH/National Institute of Arthritis[informationtherapy.in]
  • Gaithersburg, MD 20898-8126 Phone: (301) 251-4925 Toll-free: (888) 205-2311 Website: Hearing Loss Association of America 7910 Woodmont Avenue Suite 1200 Bethesda, MD 20814 Phone: (301) 657-2248 Email: info@hearingloss.org Website: NIH/National Institute of Arthritis[rarediseases.org]
Hearing Impairment
  • Björn·stad syn·drome ( byōrn'stahd ), [MIM*262000] pili torti associated with sensorineural hearing loss, the severity of distortion and brittleness of the hair correlated with the degree of hearing impairment; autosomal dominant inheritance.[medical-dictionary.thefreedictionary.com]
  • The severity of hearing impairment may be mild, moderate, or severe enough to lead to deafness. Isolated studies have reported mental retardation and hypogonadism as additional signs of BS.[symptoma.com]
  • impairment; autosomal dominant inheritance.[checkorphan.org]
  • In addition the patients had a moderate-to-severe degree of hearing impairment. Genotyping with high-density single-nucleotide polymorphism arrays showed homozygosity in two intervals on chromosome 2.[uniprot.org]
  • Affiliated tissues include skin and eye, and related phenotypes are sensorineural hearing impairment and alopecia Disease Ontology : 12 An autosomal recessive disease that is characterized by early onset of hearing loss and hair loss due to pili torti[malacards.org]
Normal Hearing
  • Hearing loss, but not pili torti, occurs in complex III deficiency 12 ; neither is a typical feature of the GRACILE syndrome, perhaps because recognition of the syndrome is hindered by complex systemic manifestations and early death.[content.nejm.org]
Progressive Hearing Loss
  • Audiometric measurements revealed various degrees of bilateral sensorineural hearing loss, moderate to severe in children and sever to profound in adult patients showing the progressive hearing loss ( Table 1 ).[doi.org]
  • Set Front Back Clinical Inheritance Autosomal recessive; 2q34 q36 gene locus Prenatal None listed Incidence Very rare approximateIy 25 cases reported; M F Age at Presentation By 2 years old Pathogenesis Unknown Clinical Hair Pili torti with/without alopecia[cram.com]
  • Abnormalities of hair (alopecia, or coarse, dry, lusterless, fragile hair) are present and mainly of cosmetic concern. Microscopic examination of the hair shaft shows flattening at irregular intervals and a 180-degree twisting around its axis.[accessanesthesiology.mhmedical.com]
  • Local inflamma-tory processes which distort the follicles, such as cica-tricial alopecia or scalp infection, can induce twistedhairs.[documents.tips]
  • The treatment of patchy hair loss (alopecia) may include the use of wigs and/or other hair replacement therapies.[rarediseases.org]
  • Symptoms may include: dry, fragile, or course hair, or patches of hair loss (alopecia). Both hearing problems, which can range from mild to severe, and abnormal hair present before the age of two.[diseaseinfosearch.org]
  • Hypogonadism Decreased activity of gonads 0000135 Intellectual disability Mental deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more ] 0001249 Percent of people who have these symptoms is not available through HPO Anhidrosis[rarediseases.info.nih.gov]
  • In addition, the eyes of the affected males and females were of light color and all the patients had anhidrosis. Teeth, nails, palms and soles were normal in all the affected individuals.[doi.org]
  • […] failure 8 613957 N S D 1 5q35.2-q35.3 Beckwith-Wiedemann syndrome 130650 Leukemia, acute myeloid 601626 Sotos syndrome 1 117550 N S U N 2 5p15.31 Mental retardation, autosomal recessive 5 611091 N TRK1 1q23.1 Insensitivity to pain, congenital, with anhidrosis[institutobernabeu.com]
  • To learn more about this effort and BJ’s commitment to hunger relief, visit them on Facebook or www.BJs.com/hunger . *Jillian Butler is the corporate social responsibility lead at BJ’s Wholesale Club. **Photos courtesy of BJ's Wholesale Club.[feedingamerica.org]
Neurologic Manifestation
  • In addition to the Björnstad syndrome, BCS1L mutations cause complex III deficiency and the GRACILE syndrome, which in neonates are lethal conditions that have multisystem and neurologic manifestations typifying severe mitochondrial disorders.[ncbi.nlm.nih.gov]


Given the rare occurrence of Bjornstad syndrome in clinical practice (approximately 20 cases have been described by the end of the 20th century) [2], the diagnosis may be difficult to attain. For this reason, the physician must obtain a detailed patient history and perform a meticulous physical examination that will provide the opportunity to identify the hallmarks of BS. The onset of deafness and hair loss must be assessed with the parents of the affected child, as most cases are described in infancy or early childhood. In addition, a complete family history that covers the presence of similar findings in siblings or parents might be of great benefit for raising clinical suspicion toward a familial disorder. Auditory testing should be conducted in order to determine the extent of hearing loss, whereas microscopic examination of the hair will reveal typical twists of the hair shaft that must point to BS [4] [7]. Transmission electron microscopy (TEM) has been used (where possible) as a method to confirm pili torti [4] [6]. To confirm the diagnosis, however, genetic testing to detect BCS1L mutations is a mandatory procedure.


  • Standard Therapies Treatment The treatment of Björnstad Syndrome is directed toward the specific symptoms that are apparent in each child. Treatment may require the skills of a team of specialists.[rarediseases.org]
  • CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes.[diseaseinfosearch.org]
  • Please consult your own licensed physician regarding diagnosis and treatment of any medical condition! Please see also our disclaimer . This site complies with the HONcode standard for health information: verify here . Database updated 2019-02-19.[diseasesdatabase.com]
  • Adherence to treatment is a problem in chronic diseases and may affect treatment outcomes. OBJECTIVE: We aim to investigate treatment adherence and satisfaction of patients with acne and identify independent factors that affect them.[medworm.com]
  • Stay at the forefront of your field with updated treatment methods throughout, as well as an increased focus on patients with skin of color.[books.google.com]


  • Prognosis - Bjornstad syndrome Not supplied. Treatment - Bjornstad syndrome Not supplied. Resources - Bjornstad syndrome[checkorphan.org]
  • […] torti with/without alopecia of scalp; eyebrows, eyelashes unaffected Ear Nose Throat Bilateral sensorineural deafness D/Dx Crandall syndrome (pili torti, deafness, hypogonadism) Menkes' syndrome Lab Auditory testing Management Referral to audiologist Prognosis[cram.com]
  • […] evaluate the mediastinal vascular structures, and to rule out other abnormalities. shows above features in greater detail attenuation of vascular structures in affected lobe 4 may also show compressive atelectasis of neighbouring lobes Treatment and prognosis[radiopaedia.org]
  • Incidence, clinical implications and prognosis of atrial arrhythmias in Brugada syndrome. Eur Heart J . 2004 May. 25(10):879-84. [Medline] . Take Y, Morita H, Toh N, Nishii N, Nagase S, Nakamura K, et al.[emedicine.medscape.com]
  • Indeed, cardiac events in the first year of life are associated with an extremely poor prognosis independent of treatment whereas for the remaining LQT3 patients, their mortality on β-blocker therapy appears to be close to 3% and seems to be largely related[academic.oup.com]


  • However, the variable mode ofinheritance of this syndrome, and its unknown etiology,call for further investigation.REFERENCES1. Bjornstad R.[documents.tips]
  • Etiology Björnstad syndrome is caused by mutations in the BCS1L gene. Mutations in this gene also cause GRACILE syndrome (see this term). Genetic counseling Björnstad syndrome is transmitted as an autosomal recessive condition.[rarediseases.info.nih.gov]
  • Brugada syndrome is genetically determined and has an autosomal dominant pattern of transmission in about 50% of familial cases (see Etiology).[emedicine.medscape.com]


  • Epidemiology Less than fifty cases have been reported so far. Clinical description The hearing loss usually becomes evident very early in life, often in the first year.[rarediseases.info.nih.gov]
  • ., Descriptive Epidemiology of Collegiate Mens s Basketball Injuries, J Athletic Training 2007; 42(2):202-210. Agel, J. et al., Descriptive Epidemiology of Collegiate Womens s Basketball Injuries, J Athletic Training 2007; 42(2):202-210.[medicina.ucm.es]
  • R., et al. 1970 WHO collaborative study on the sero-epidemiology of rubella in Caribbean and Middle and South American populations in 1968 . Bull. World Health Organ. 42 , 419–422. PubMed , Google Scholar[rsif.royalsocietypublishing.org]
  • Epidemiology Prevalence is 1 in 7,500-10,000 children.[aao.org]
Sex distribution
Age distribution


  • This book will help you understand the basic pathophysiology, clinical presentation, and the most effective treatment options for patients with hair-growth disorders.[books.google.it]
  • "Brugada" syndrome: clinical data and suggested pathophysiological mechanism. Circulation . 1999 Feb 9. 99(5):666-73. [Medline] . Meregalli PG, Wilde AA, Tan HL.[emedicine.medscape.com]
  • A wide range of changes associated with pili torti suggest specific pathophysiological mechanisms, which have irregular hair shafts as their common denominator. Morphological studies of its axis showed no abnormalities in the hair cortex keratin.[scielo.br]


  • Biochemical studies provided evidence to support this model: complex III deficiency mutations prevented ATP-dependent assembly of BCS1L-associated complexes.[ncbi.nlm.nih.gov]
  • NIOSH leads a national initiative called Prevention through Design (PtD). PtD’s purpose is to promote this concept and highlight its importance in all business decisions.[malacards.org]
  • Prevention - Bjornstad syndrome Not supplied. Diagnosis - Bjornstad syndrome Not supplied. Prognosis - Bjornstad syndrome Not supplied. Treatment - Bjornstad syndrome Not supplied. Resources - Bjornstad syndrome[checkorphan.org]
  • "We put a lot of emphasis on preventative measures to ensure we have best-in-class procedures that limit injury."[genetec.com]



  1. Hinson JT, Fantin VR, Schönberger J, et al. Missense mutations in the BCS1L gene as a cause of the Björnstad syndrome. N Engl J Med. 2007;356(8):809-819.
  2. Lubianca Neto JF, Lu L, Eavey RD, et al. The Bjornstad syndrome (sensorineural hearing loss and pili torti) disease gene maps to chromosome 2q34-36. Am J Hum Genet 1998;62:1107-1112.
  3. Siddiqi S, Siddiq S, Mansoor A, et al. Novel mutation in AAA domain of BCS1L causing Bjornstad syndrome. J Hum Genet. 2013;58(12):819-821.
  4. Zhang J, Duo L, Lin Z, et al. Exome sequencing reveals novel BCS1L mutations in siblings with hearing loss and hypotrichosis. Gene. 2015;566(1):84-88.
  5. 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;10:91-97.
  6. Marubashi Y, Yanagishita T, Muto J, et al. Morphological analyses in fragility of pili torti with Björnstad syndrome. J Dermatol. 2017;44(4):455-458.
  7. Scott MJ Jr, Bronson DM, Esterly NB. Björnstad syndrome and pili torti. Pediatr Dermatol. 1983;1(1):45-50.

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Last updated: 2019-06-28 11:29