Bohring Syndrome; BOS Syndrome; C-Like Syndrome; Oberklaid-Danks Syndrome; Opitz Trigonocephaly-Like Syndrome

Bohring-Opitz syndrome (BOS) is an ultra-rare genetic disorder that is usually noticeable at birth. BOS is caused by a de novo (new) change to the ASXL1 gene, though it may be inherited from parents in rare cases.

BOS affects multiple body systems. Children with BOS often have severe growth restrictions, making them quite small. They may have severe developmental delay, feeding difficulties, distinctive facial features and a red or pink birthmark (nevus flammeus) on their forehead or eyelids, as well as seizures and heart anomalies. A characteristic sign of this condition is known as “BOS posture,” where the elbows are bent and the wrists angle outwards.

Some children with BOS are able to walk with the assistance of walkers or braces, but most are unable to walk independently. Additionally, children with BOS typically have significant learning differences, and most do not develop typical speech or walking abilities.

The condition is associated with a high mortality rate, and many children do not survive past 2 years old.

Diagnostic testing: BOS is diagnosed through a combination of:

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  Examination of characteristic clinical features including a cleft lip/palate, trigonocephaly (triangular-shaped head), glabellar/frontal nevus flammeus (red or pink birthmark on forehead), prominent eyes, unibrow, low-set ears, a high/narrow palate, truncal hypotonia, and hypertonic extremities;

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  Neuroimaging (magnetic resonance imaging (MRI), computed tomography (CT), and positron emission tomography (PET) scans; and

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  Sequencing of ASXL1.

If sequencing is negative, multiplex ligation-dependent probe amplification may be used.

Signs and symptoms: Signs and symptoms of BOS may include:

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  Severe developmental delay;

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  Intellectual disability;

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  Internal rotation of the shoulders, flexion of the elbows, ulnar deviation of wrists and/or metacarpophalangeal joints;

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  Distinctive facial features;

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  Severe neonatal feeding difficulties;

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  Hirsutism (excessive hair growth);

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  Micrognathia (abnormally small jaw);

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  Seizures;

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  Obstructive sleep apnea/sleep disturbances during infancy;

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  Corpus callosum defects;

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  Retinal and optic nerve abnormalities;

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  Heart defects; and

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  Gastrointestinal issues.

ICD-9: 759.89

ICD-10: Q87.8; Q87.89

While 50% of cases may not survive past age 2 due to respiratory/cardiac issues, some children may live into adolescence or early adulthood. Children with BOS have a high mortality rate in the first two years due to severe respiratory infections, bradycardia, and sleep apnea. The children who survive into adolescence or early adulthood typically experience persistent severe neurodevelopmental impairment, severe vision issues, and require lifelong care.

There are no specific medications or therapies for BOS. Treatment typically focuses on supportive care . Supportive treatment is usually multidisciplinary and includes physical therapy, respiratory therapy, occupational therapy, speech therapy, and feeding therapy to aid in feeding and swallowing skills.

Suggested MER for Evaluation:

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  Clinical history and examination that describes the diagnostic features of the impairment;

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  Results of genetic testing and sequencing of ASXL1; and

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  Results of neuroimaging.

Suggested Listings for Evaluation:

2.09

12.05

12.11

100.05

110.08B

111.09

112.05

112.11

112.14

11.17B2

111.17

There must be a marked limitation in physical functioning and mental functioning that affects an individual’s ability to interact with others to equal listing 11.17B2.