Bohring Opitz syndrome

Bohring-Opitz syndrome
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Bohring-Opitz syndrome (BOS) is a rare genetic disorder characterized by distinctive facial features, growth retardation, and various developmental anomalies. It is caused by mutations in the ASXL1 gene, which plays a crucial role in chromatin remodeling and gene expression regulation.

Presentation

Individuals with Bohring-Opitz syndrome typically present with a range of clinical features, including:

• Craniofacial dysmorphism: This includes a prominent metopic suture, trigonocephaly, and a characteristic facial appearance with exophthalmos, a depressed nasal bridge, and a small mouth.
• Growth retardation: Affected individuals often exhibit intrauterine growth restriction and postnatal growth deficiency.
• Neurological abnormalities: These may include intellectual disability, seizures, and hypotonia.
• Feeding difficulties: Many patients experience significant feeding challenges, often requiring nutritional support.
• Skeletal anomalies: Such as joint contractures and scoliosis.

Genetics

Bohring-Opitz syndrome is caused by de novo mutations in the ASXL1 gene, located on chromosome 20q11.21. The ASXL1 gene is involved in the regulation of epigenetic modifications, which are crucial for normal development and differentiation. Mutations in this gene lead to the disruption of normal gene expression patterns, contributing to the clinical manifestations of the syndrome.

Diagnosis

The diagnosis of Bohring-Opitz syndrome is primarily clinical, based on the characteristic features observed in affected individuals. Genetic testing can confirm the diagnosis by identifying mutations in the ASXL1 gene. Whole exome sequencing or targeted gene panels are commonly used diagnostic tools.

Management

Management of Bohring-Opitz syndrome is supportive and symptomatic, focusing on addressing the specific needs of each patient. This may include:

• Nutritional support to manage feeding difficulties.
• Physical therapy to improve motor skills and manage joint contractures.
• Anticonvulsant medications for seizure control.
• Regular monitoring and management of growth and developmental progress.

Prognosis

The prognosis for individuals with Bohring-Opitz syndrome varies depending on the severity of the symptoms and the presence of complications. Early intervention and supportive care can improve quality of life and developmental outcomes.

Epidemiology

Bohring-Opitz syndrome is an extremely rare condition, with only a few hundred cases reported in the medical literature. It affects both males and females equally and occurs worldwide.

History

Bohring-Opitz syndrome was first described in 1999 by Bohring et al. The syndrome was later linked to mutations in the ASXL1 gene, providing insights into its genetic basis.

Also see

• ASXL1 gene
• Genetic disorders
• Epigenetics
• Craniofacial dysmorphism

NIH genetic and rare disease info

• NIH info on Bohring Opitz syndrome

Bohring Opitz syndrome is a rare disease.