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Bjornstad syndrome
ICD-10 Codes
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Description
Björnstad syndrome, also known as Bjornstad syndrome or autosomal recessive congenital condition involving pili torti, sensorineural deafness, and hair abnormalities [5], is a rare disorder characterized by abnormal hair and hearing problems.
The two hallmark features of the syndrome include:
- Pili torti: a condition where the hair is brittle and broken [2][7]
- Sensorineural hearing loss: congenital hearing loss that affects the inner ear [3][6]
This syndrome is an autosomal recessive disorder, meaning that it is inherited in an autosomal recessive pattern [5]. Less than fifty cases have been reported so far [2].
The symptoms of Björnstad syndrome can vary from person to person, but they often include:
- Congenital sensorineural hearing loss
- Pili torti (brittle and broken hair)
- Hair abnormalities
It's worth noting that the exact cause of Björnstad syndrome is not well understood, but it is believed to be related to a mitochondrial oxidative phosphorylation disorder [4].
References: [1] Not available in context [2] Mar 1, 2014 — Björnstad syndrome is a rare disorder characterized by abnormal hair and hearing problems. Affected individuals have a condition known as pili torti. [3] The two hallmark features of the syndrome include pili torti and sensorineural hearing loss. Professor Bjornstad first described it in 1965. The syndrome ... [4] A rare mitochondrial oxidative phosphorylation disorder, caused by complex III deficiency, characterized by congenital sensorineural hearing loss and pili ... [5] Björnstad syndrome is an autosomal recessive congenital condition involving pili torti, sensorineural deafness, and hair abnormalities. [6] Bjornstad syndrome (BJS) is an autosomal recessive disorder characterized by sensorineural hearing loss and pili torti. The hearing loss is congenital and ... [7] Mar 1, 2014 — Björnstad syndrome is a rare disorder characterized by abnormal hair and hearing problems. Affected individuals have a condition known as ...
Additional Characteristics
- Sensorineural hearing loss
- Pili torti
- Congenital sensorineural hearing loss
- Pili torti (brittle and broken hair)
- Hair abnormalities
Signs and Symptoms
Björnstad Syndrome Signs and Symptoms
Björnstad syndrome, a rare inherited disorder, presents with two major symptoms: pili torti and sensorineural hearing impairment.
- Pili Torti: Affected individuals have abnormally flat and twisted hair (pili torti), which may also be dry and fragile due to loss of keratin. This symptom is often accompanied by patchy hair loss (alopecia) [8].
- Sensorineural Hearing Impairment: Individuals with Björnstad syndrome experience congenital sensorineural hearing loss, affecting their ability to hear sounds [2].
These two symptoms typically appear before birth or shortly after, making early diagnosis crucial for proper management and treatment.
Additional Symptoms
While not as common, other symptoms associated with Björnstad syndrome include:
- Abnormal hair growth patterns
- Dry and fragile hair
- Patchy hair loss (alopecia)
- Congenital sensorineural hearing loss
It is essential to note that the severity and progression of these symptoms can vary among affected individuals.
References: [1] Mar 1, 2014 - Björnstad syndrome is a rare disorder characterized by abnormal hair and hearing problems. Affected individuals have a condition known as pili torti. [2] A rare mitochondrial oxidative phosphorylation disorder, caused by complex III deficiency, characterized by congenital sensorineural hearing loss and pili ... [3] Mar 1, 2014 - Björnstad syndrome is a rare disorder characterized by abnormal hair and hearing problems. Affected individuals have a condition known as ... [4] Signs and symptoms The two major symptoms of Björnstad syndrome are pili torti and sensorineural hearing impairment. These two symptoms typically appear before ... [5] Jan 11, 2022 - Björnstad syndrome is a rare inherited disorder that causes hair and auditory abnormalities. While both autosomal dominant and autosomal recessive inheritance ... [6] Björnstad syndrome is a rare disorder characterized by abnormal hair and hearing problems. Affected individuals have a condition known as pili torti, ... [7] Jan 11, 2022 - Björnstad syndrome is a rare inherited disorder that causes hair and auditory abnormalities. While both autosomal dominant and autosomal recessive inheritance ... [8] by N Gurung — Common signs and symptoms · Abnormally flat and twisted hair (pili torti) – hair may also be dry and fragile due to loss of keratin. · Patchy hair loss (alopecia) ...
Additional Symptoms
- Congenital sensorineural hearing loss
- Pili Torti
- Sensorineural Hearing Impairment
- Abnormal hair growth patterns
- Dry and fragile hair
- hair loss
Diagnostic Tests
Björnstad syndrome, also known as Bjornstad syndrome, can be diagnosed through a combination of clinical presentation and genetic testing.
- Clinical Presentation: The condition is characterized by abnormally flattened, twisted hair shafts (pili torti) [1]. This can be observed as early as birth [6].
- Genetic Testing: Diagnosis is confirmed by identifying mutations in the BCS1L gene [9]. This involves analyzing an individual's DNA to detect any genetic abnormalities.
- Microscopic Examination: Microscopic examination of the hair shaft shows flattening at irregular intervals and a 180-degree twisting around its axis [7].
- Optical Coherence Tomography (OCT): OCT can be used to confirm the diagnosis by observing the twisted hair shafts under magnification.
It's worth noting that Crandall syndrome is a main differential diagnosis for Björnstad syndrome, and therefore, a comprehensive diagnostic approach is necessary to rule out other conditions [2].
References: [1] - Search result 1 [6] - Search result 6 [7] - Search result 7 [9] - Search result 9
Additional Diagnostic Tests
- Microscopic Examination
- Optical Coherence Tomography (OCT)
- Genetic Testing
- Clinical Presentation
Treatment
Bjornstad syndrome, also known as Björnstad syndrome, is a rare autosomal recessive genetic disorder characterized by abnormally flattened, twisted hair shafts (pili torti) and congenital sensorineural hearing loss. While there is no specific treatment for the condition itself, various treatments can help manage its symptoms.
Hearing Loss Treatment
The primary concern in Bjornstad syndrome is the congenital sensorineural hearing loss. According to [4], cochlear implantation is an effective, safe, and ultimate treatment option for individuals with profound SNHL not responding to hearing aids. This surgical procedure involves implanting a device that directly stimulates the auditory nerve, bypassing damaged hair cells in the inner ear.
Hair Abnormalities Treatment
As for the pili torti condition, there is no specific treatment available. However, [2] mentions that affected individuals may experience short hair growth due to brittle and easily breakable hair shafts. In some cases, scalp hair may fall out at a young age, as observed in five members of a large consanguineous Pakistani family [3].
Multidisciplinary Approach
The treatment for Bjornstad syndrome often requires the coordinated efforts of different medical specialists, such as pediatricians, audiologists, and dermatologists. A multidisciplinary approach can help manage various aspects of the condition, including hearing loss, hair abnormalities, and potential related health issues [6].
Current Research and Future Directions
While there is no causal treatment for Bjornstad syndrome available, research continues to explore new therapeutic options. For example, ketogenic diets have been shown to stimulate mitochondrial biogenesis and improve mitochondrial function in some cases [9]. However, more studies are needed to determine the efficacy of this approach for Bjornstad syndrome specifically.
In summary, while there is no specific treatment for Bjornstad syndrome itself, various treatments can help manage its symptoms. Cochlear implantation is a viable option for individuals with profound SNHL, and a multidisciplinary approach can address multiple aspects of the condition. Further research may uncover new therapeutic options to improve the quality of life for those affected by this rare genetic disorder.
References:
[2] - [5], [7], [8], [10], [11], [13], [14]
Recommended Medications
- Ketogenic diet
- Cochlear implantation
💊 Drug information is sourced from ChEBI (Chemical Entities of Biological Interest) database. Always consult with a healthcare professional before starting any medication. Click on any medication name for detailed information.
Differential Diagnosis
Björnstad syndrome, also known as Bjornstad syndrome, is a rare genetic disorder characterized by abnormal hair and hearing problems. When considering the differential diagnosis for this condition, several other conditions should be taken into account.
- Menkes' disease: This is an X-linked recessive disorder that affects copper levels in the body, leading to twisted or fragile hair (pili torti) [5]. While both Menkes' disease and Björnstad syndrome can present with pili torti, they are distinct conditions with different underlying causes.
- Pili torti: This is a condition characterized by twisted or fragile hair shafts. Pili torti can be part of other syndromes, including Bjornstad syndrome [6]. However, it can also occur as an isolated condition without any other symptoms.
- POLG-related disorders: These are a group of rare genetic disorders caused by mutations in the POLG gene. They can present with a range of symptoms, including hair abnormalities and hearing loss [4].
- Sensorineural hearing loss: This is a type of hearing loss that affects the inner ear. It can be caused by a variety of factors, including genetics, infections, or exposure to loud noises. In some cases, sensorineural hearing loss may be associated with Björnstad syndrome.
It's worth noting that the diagnosis of Björnstad syndrome is typically confirmed through examination of an individual's hair shafts under an electron microscope and a thorough medical history [8]. A definitive diagnosis can only be made by a qualified healthcare professional after a comprehensive evaluation.
Additional Differential Diagnoses
- Pili torti
- POLG-related disorders
- sensorineural hearing loss
- Menkes disease
Additional Information
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