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Bohring-Opitz Syndrome

Overview


Bohring-Opitz syndrome (BOS) is a rare, multiple anomaly syndrome that most often is evident at birth (congenital) and affects an individual’s growth, development, and variable organ-systems. Individuals with BOS often have severe growth restriction and are therefore quite small; they may have feeding difficulties, characteristic facial features, and the presence of a red or pink birthmark (nevus flammeus) on the forehead or eyelids. Individuals may also have seizures, heart anomalies, and a characteristic ‘BOS posture’ where the elbows are bent and wrists angle outwards.




Symptoms 

Symptoms of this disease may start to appear during Pregnancy and as a Newborn.

The age symptoms may begin to appear differs between diseases. Symptoms may begin in a single age range, or during several age ranges. The symptoms from some diseases may begin at any age. Knowing when symptoms began to appear can help medical providers find the correct diagnosis.



Causes

BOS is thought to be caused by changes (mutations) in the ASXL1 gene. This gene is thought to play a role in chromatin remodeling, which is responsible in part for the packaging of genetic material in the body. The ASXL1 gene is also thought to be involved in activating and silencing other genes in the HOX family.

All individuals who have been reported to have a mutation in the ASXL1 gene appear to have developed it spontaneously, and not inherited it from a parent. If BOS were to be inherited, it is theorized that it would be in an autosomal dominant manner, meaning that the individual with BOS would have a 50% chance of passing down the affected gene change to any offspring.

In some disorders which are dominant, individuals may have varying expression of certain signs and symptoms. Therefore, not all individuals with BOS may be identical in regards to their medical issues, although many do share similar characteristics.



Diagnosis

The definitive diagnosis of BOS is made after molecular testing for mutations in the ASXL1 gene. Clinical suspicion for BOS may be raised if an individual displays the characteristic BOS posturing of the hands and elbows, is having delayed growth and developmental milestones, and has the characteristic facial features seen in BOS, including the presence of characteristic birthmarks. While the aforementioned characteristics are considered classic, individuals may present more variably, so BOS should not be entirely excluded necessarily on clinical presentation alone, unless obvious signs of another condition are present.


Clinical Testing and Work-up

Children with BOS should receive regular abdominal ultrasounds every three months from birth (or at the time of diagnosis) until eight years to screen for Wilms tumor. They should also receive regular evaluations to focus on growth, feeding, nutrition, and management of other complications.



Affected Populations

BOS is not thought to affect one population of individuals more than another, and does not show any higher prevalence in males or females. There are no areas of the world where BOS is thought to be more common due to founder mutations or inbreeding (consanguinity). The current prevalence is unknown; there have been approximately 50 individuals reported in the literature but there may be others who have either not had testing or who have not come to medical attention.



Treatment

There are currently no definitive treatments, medications, or therapies that will reverse the symptoms of BOS as there are no proven treatments to change an individual’s mutation in the ASXL1 gene. While some work is being done in general with gene therapy and other advanced technologies (CRISPR/CAS9), there have been no studies on children with BOS.

Treatment is currently geared toward symptomatic treatment for an individual’s specific medical issues. Most children will benefit from a combination of various therapies, including physical, occupational, and speech. They may also benefit from an augmented communication device and other devices to assist with mobility, including standers, gait trainers, adaptive strollers, etc.

Children with feeding difficulties may benefit from G-tubes or GJ tubes; those who are at risk for recurrent aspiration and develop lung disease or who need supplemental oxygen may need a tracheostomy and/or ventilator support.

Individuals who obtain common respiratory infections should be aggressively treated with the assistance of clearance of secretions and managed appropriately to reduce complications. All individuals with BOS, unless there is evidence of cellular immunodeficiency, should receive the standard schedule of childhood immunizations, including prophylaxis for RSV, if appropriate, and influenza.



Who discovered Bohring-Opitz syndrome?

Bohring–Opitz syndrome (BOS) was first described in 1999 by Bohring et al,1 who described four new patients and identified similarities with two patients who had previously been reported as having Opitz C syndrome.



What is Opitz disease?

Opitz is also known as oculo-genito-laryngeal syndrome and BBB/G compound syndrome. About a quarter of all children with this syndrome have a cleft lip or palate. The syndrome can also include other facial abnormalities, such as a small jaw, ear abnormalities and a prominent forehead.



What are the features of Opitz syndrome?

This condition is characterized by distinctive facial features, small head size (microcephaly), intellectual disability or learning problems, and behavioral problems. Many affected children have the characteristic features of autism, a developmental condition that affects communication and social interaction.



Does life expectancy change with age?

Each year a person lives means they have survived multiple potential causes of death. This means that life expectancy actually can increase with age. If that person lived to 75 (in 2018), their life expectancy increased to 87.3—8.6 years longer than the average child born in 2018.

1.    Types of doctor department :-medical geneticist is a doctor who specializes in diagnosing and treating genetic disorders



























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