Clinical Guidance

Bohring-Opitz syndrome (BOS) is a rare condition characterized by distinctive facial features and posture, variable but usually severe intellectual disability, growth failure, and variable anomalies. Feeding difficulties have a significant impact on overall health in early childhood; feeding tends to improve with age. This section summarizes clinical data from numerous case reports and case series; see and references therein, , and Suggested Reading. Additional references are cited where appropriate. Craniofacial. Individuals with BOS have a characteristic facial appearance , although significant variability is observed.

Diagnostic Criteria

Prior to the identification of the molecular cause of Bohring-Opitz syndrome (BOS), had proposed clinical diagnostic criteria for the condition. Ultimately, only five individuals used to develop these clinical diagnostic criteria were molecularly confirmed to have BOS. Therefore, the specificity of these diagnostic criteria is unclear.

Suggestive Findings

Bohring-Opitz syndrome should be suspected in individuals with the following clinical features [, , , , ]. Craniofacial appearance

Management Guidelines

Evaluations Following Initial Diagnosis To establish the spectrum of manifestations and medical needs in an individual diagnosed with Bohring-Opitz syndrome (BOS), the following evaluations are recommended if they have not already been completed. Table 3. Recommended Evaluations Following Initial Diagnosis of Bohring-Opitz Syndrome

Surveillance Guidelines

The following are appropriate:

• Renal ultrasound every three months from birth to age eight years to screen for the development of Wilms tumor

• Frequent monitoring of growth and development with interventions as needed

• Close management of feeding intolerance with a gastroenterology specialist