What are the other Names for this Condition? (Also known as/Synonyms)

• Björnstad Syndrome
• Deafness-Pili Torti-Hypogonadism
• Pili Torti and Nerve Deafness (PTND)

What is Bjornstad Syndrome? (Definition/Background Information)

• Bjornstad Syndrome (BJS or Björnstad Syndrome) is a very rare genetic disorder that leads to abnormal hair growth and hearing loss. It is caused by the inheritance of mutations in the BCS1L gene. It is also known as Pili Torti and Nerve Deafness (PTND)
• The syndrome follows an autosomal recessive inheritance pattern, such that an individual must have two copies of the mutated BCS1L gene in order to have the disorder. Thus, a family history of Bjornstad Syndrome is the single greatest risk factor for a child to be born with the syndrome
• The signs and symptoms of Bjornstad Syndrome include patches of hair loss in a child. If there is hair on the scalp, it is often dry, brittle, and coarse. Additionally, the condition can also cause deafness and underdeveloped reproductive organs
• A child may be diagnosed with Bjornstad Syndrome right after birth due to the presence of twisted hair (termed pili torti). The hair shafts may be examined under an electron microscope to identify the characteristic features. Also, specialized hearing tests are administered to evaluate nerve deafness
• The complications of Bjornstad Syndrome often are related to mutations in the BCS1L gene, which can lead to mitochondrial complex III deficiency. Apart from this, individuals may show irreversible hearing loss and premature baldness
• There is currently no specific treatments available for Bjornstad Syndrome; however, a management of the symptoms, such as abnormal hair growth and hearing loss, may be undertaken by a qualified healthcare provider. Even though the affected individuals have a normal lifespan, permanent hearing loss and other associated symptoms remain lifelong
• Presently, there are no available preventative measures for Bjornstad Syndrome, although genetic counseling and testing prior to planning for a child may help in assessing the risks of a couple having a child with the disorder

Who gets Bjornstad Syndrome? (Age and Sex Distribution)

• Since Bjornstad Syndrome is an inherited disorder, individuals typically display symptoms shortly after birth (congenital manifestation)
• Bjornstad Syndrome is a very rare condition that can affect both males and females, regardless of geographic location and ethnicity/race

What are the Risk Factors for Bjornstad Syndrome? (Predisposing Factors)

The risk factors that contribute to the development of Bjornstad Syndrome include:

• Individuals with a family history of Bjornstad Syndrome are at a higher risk for developing the disorder
• Children born to consanguineous parents (parents related by blood) are at a higher risk

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Bjornstad Syndrome? (Etiology)

Bjornstad Syndrome is an autosomal recessive condition that is caused by the inheritance of two mutated copies of the BCS1L gene from the parents. The BCS1L gene is found on the long arm (q) of chromosome 2 (2q35).

• This causes impairment of complex II formation, a group of proteins involved in cellular oxidative phosphorylation (process of energy production in cell)
• The effects of these mutations can manifest as tissue damage of the inner ears and damage to the hair follicles

Rarely, a spontaneous genetic mutation in the BCS1L gene can also lead to the development of Bjornstad Syndrome.

Autosomal recessive: Autosomal recessive conditions are traits or disorders that occur when two copies of an abnormal gene have been inherited on a non-sex chromosome. If both parents have an autosomal recessive condition, there is a 100% likelihood of passing on the mutated genes to their children. If, however, only one mutant copy of the gene is inherited, the individual will be a carrier of the condition, but will not be present with any symptoms. Children born to two carriers, have a 25% chance of being homozygous dominant (unaffected), a 50% chance of being heterozygous (carrier), and a 25% chance of being homozygous recessive (affected).

What are the Signs and Symptoms of Bjornstad Syndrome?

Many of the hearing and hair abnormalities of Bjornstad Syndrome manifest early on during childhood. The signs and symptoms of the disorder may include:

• Scalp hair that is dry, brittle, without luster, and/or coarse
• Flattened and/or twisted hair shafts visible under an electron microscope. The twisting of the hair shafts is what causes its brittle and dry nature
• Visible patches of hair loss on scalp, as well as on other parts of the body
• Deafness is apparent at birth or during the first year of life after birth
• Underdevelopment of the reproductive organs in both males and females (hypogonadism)
• Delayed development of secondary sexual characteristics, such as the female breasts and hair growth associated with puberty

It is important to note that the signs and symptoms may present very differently in each child; also, some symptoms can take time to develop.

How is Bjornstad Syndrome Diagnosed?

Bjornstad Syndrome is often diagnosed in a child after birth by the presence of twisted hair (pili torti). 

• The diagnosis may be confirmed by examination of an individual’s hair shafts under an electron microscope
• Further confirmation of Bjornstad Syndrome diagnosis includes evaluation of nerve deafness through specialized hearing tests
• A diagnosis of Bjornstad Syndrome can be made prior to birth, if genetic testing of the fetus reveals mutations in the BCS1L gene

Note: The expecting parents can undergo genetic counseling to determine their risks of having a child with Bjornstad Syndrome.

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Bjornstad Syndrome?

The complications of Bjornstad Syndrome could include:

• Permanent hearing loss
• Patchy hair growth resulting in emotional and social stress
• Delayed growth of reproductive organs
• Mitochondrial complex III deficiency, which can lead to neonatal renal tubulopathy, encephalopathy, and liver failure
• GRACILE syndrome due to mutations in the BCS1L gene, which includes symptoms such as: 
  • Intrauterine growth retardation
  • Aminoaciduria
  • Cholestasis
  • Iron overload
  • Lactic acidosis

Early death may take place with GRACILE syndrome.

How is Bjornstad Syndrome Treated?

There is currently no specific treatments available for reversing the effects of Bjornstad Syndrome.

• Upon diagnosis of Bjornstad Syndrome, treatment plans depend on the severity of the symptoms and are generally directed towards symptom management 
• Treatment plans for Bjornstad Syndrome often involve coordination between pediatricians, audiologists, and dermatologists
• Therapy plans for managing the symptoms of Bjornstad Syndrome in affected children can include: 
  • Wigs and/or hair replacement therapies for the patchy hair loss that accompanies the syndrome
  • Use of hearing aids for hearing loss 

How can Bjornstad Syndrome be Prevented?

Currently, there are no specific methods of prevention for Bjornstad Syndrome since it is a genetic condition. 

• Genetic counseling and family history assessment can aid parents in understanding their risks of having a child with the syndrome
• Molecular testing of the fetus during pregnancy can also help the parents better understand the risks associated with the syndrome
• Active research is currently being conducted in order to explore the possibilities for treatment and prevention of genetic disorders 

For those diagnosed with Bjornstad Syndrome, regular medical screenings at periodic intervals are strongly recommended.

What is the Prognosis of Bjornstad Syndrome? (Outcomes/Resolutions)

• In general, the prognosis for Bjornstad Syndrome is reported to be better with early diagnosis followed by appropriate treatment of the symptoms
• However, the affected individuals may present permanent hair loss and have lifelong disabilities such as deafness

Additional and Relevant Useful Information for Bjornstad Syndrome:

The National Institutes of Health is currently sponsoring research to map every gene in the human body in order to create more effective preventative measures as well as treatments for genetic disorders like Bjornstad Syndrome.

Clinical trials regarding treatment for Bjornstad Syndrome can be found at www.clinicaltrials.gov.