Bohring-Opitz syndrome (BOS) is a rare genetic disorder characterized by distinctive facial features, a characteristic posture, intellectual disability (usually severe), growth deficiency, and various other anomalies. Feeding difficulties are also commonly observed in early childhood.
Key Characteristics of Bohring-Opitz Syndrome:
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Facial Features: Individuals with BOS often have a distinct facial appearance, including:
- Prominent forehead
- Hirsutism (excessive hair growth)
- Synophrys (unibrow)
- Widely spaced eyes
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Posture: A characteristic posture is often observed, with flexed elbows and wrists, and sometimes knees.
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Intellectual Disability: Intellectual disability is usually severe, affecting development and learning.
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Growth Deficiency: Affected individuals often experience growth failure.
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Feeding Difficulties: Feeding problems are common in infancy, potentially impacting overall health. These usually improve with age.
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Other Anomalies: Other potential features include:
- Cardiac anomalies
- Skeletal abnormalities
- Genitourinary anomalies
Genetics and Cause
Bohring-Opitz syndrome is typically caused by mutations in the ASXL1 gene. This gene plays a critical role in regulating gene expression. Most cases are caused by new (de novo) mutations, meaning they are not inherited from parents.
Diagnosis and Management
Diagnosis is typically based on clinical findings, including the characteristic facial features and posture. Genetic testing can confirm the diagnosis by identifying a mutation in the ASXL1 gene. Management focuses on addressing the individual's specific needs, including feeding support, physical therapy, and educational interventions.
Prognosis
The prognosis for individuals with Bohring-Opitz syndrome varies. Many affected individuals experience significant health challenges. However, with appropriate medical care and support, individuals with BOS can achieve their full potential.
