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Bohring Syndrome: Signs, Causes, And How To Treat
Bohring Syndrome is a rare genetic disorder that affects individuals from birth. This syndrome can have a significant impact on a person's overall health and well-being, often leading to various challenges and complications. The condition can affect different systems in the body, causing a range of issues that may impact daily life and development. Understanding the effects of Bohring Syndrome is crucial in providing appropriate care and support for individuals living with this rare condition.
What are the Symptoms of Bohring Syndrome
Bohring Syndrome is characterized by a range of severe and complex symptoms affecting multiple systems in the body.
- Failure to thrive
- Intellectual disability
- Severe feeding difficulties
- Breathing problems
- Developmental delays
- Distinctive facial features
- Low muscle tone
- Hearing loss
- Seizures
- Sleep disturbances
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Get Second OpinionCauses of Bohring Syndrome
Bohring Syndrome is primarily caused by mutations in the ASXL1 gene.
- De novo mutations in the ASXL1 gene
- Genetic factors
- Unknown environmental factors
Types of Bohring Syndrome
Bohring Syndrome can manifest in various forms, each presenting distinct challenges and symptoms that require specialized care and management.
- BohringOpitz Syndrome (BOS): A rare genetic disorder characterized by severe intellectual disability, growth retardation, feeding difficulties, and distinct facial features.
- BohringOpitzlike Syndrome: A condition similar to BOS but lacks the specific genetic mutation associated with BOS.
- Clike BohringOpitz Syndrome: A variant of BOS with clinical features resembling BOS but caused by mutations in a different gene.
- Severe Intellectual Disability and Progressive Postnatal Microcephaly with Midline Frown: A subtype of Bohring Syndrome characterized by profound intellectual disability, progressive microcephaly, and a distinct frowning facial expression.
- BohringOpitz Syndrome A recently described subtype of Bohring Syndrome with overlapping features of BOS but distinct genetic mutations.
Risk Factors
Bohring Syndrome, a rare genetic disorder, is associated with various risk factors that can include advanced parental age at conception, certain genetic mutations, and a family history of the condition.
- Genetic mutations
- Family history of Bohring Syndrome
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Diagnosis of Bohring Syndrome
Bohring Syndrome is typically diagnosed through a combination of clinical evaluations, genetic testing, and specialist consultations.
- Genetic testing
- Physical examination
- Developmental assessments
- Imaging studies
Treatment for Bohring Syndrome
Treatment for Bohring Syndrome focuses on managing symptoms and providing supportive care to improve the individual's quality of life.
- Symptomatic Treatment: Managing symptoms such as feeding difficulties, respiratory issues, and developmental delays through a multidisciplinary approach involving specialists like pediatricians, speech therapists, and physical therapists.
- Genetic Counseling: Providing support and guidance to families regarding the genetic implications of Bohring Syndrome, including understanding the inheritance pattern and potential recurrence risks.
- Early Intervention Services: Initiating early intervention services to address developmental delays and provide support for children with Bohring Syndrome to optimize their physical, cognitive, and social development.
- Palliative Care: Offering palliative care services to improve the quality of life for individuals with Bohring Syndrome by focusing on pain management, symptom relief, and emotional support for both the patient and their family.
- Research Participation: Encouraging participation in research studies and clinical trials to advance the understanding of Bohring Syndrome, explore potential treatment options, and contribute to the development of future therapies.
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040-68334455Frequently Asked Questions
What is Bohring Syndrome?
Bohring Syndrome, also known as BohringOpitz Syndrome, is a rare genetic condition characterized by intellectual disability, growth delays, distinctive facial features, and other physical abnormalities.
What causes Bohring Syndrome?
Bohring Syndrome is caused by mutations in the ASXL1 gene. These mutations disrupt normal development and can lead to the symptoms associated with the syndrome.
What are the common symptoms of Bohring Syndrome?
Common symptoms of Bohring Syndrome include global developmental delay, feeding difficulties, failure to thrive, distinctive facial features, and respiratory issues.
Is there a cure for Bohring Syndrome?
Currently, there is no cure for Bohring Syndrome. Treatment focuses on managing symptoms and providing supportive care to improve quality of life.
How is Bohring Syndrome diagnosed?
Bohring Syndrome is typically diagnosed through genetic testing to identify mutations in the ASXL1 gene. A clinical evaluation by a geneticist or healthcare provider familiar with rare genetic conditions may also be necessary.
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