Introduction
There are many syndromes that occur as a result of mutation, and because of that, they are present from birth. Krause syndrome is one of them. It is a rare genetic disorder that impacts multiple parts of the body. It is caused by mutations in the B3GALTL gene, which gives instructions for the creation of an enzyme that is involved in the production of certain types of sugars. These sugars are important for the normal functioning of numerous organs and tissues throughout the body. Mutations in the B3GALTL gene can disrupt the production of these sugars, leading to the characteristic features of Peters Plus Syndrome.
What Is Krause Syndrome?
Krause syndrome is commonly known by several names, including Krause-Van Schooneveld-Kivlin syndrome, Peters anomaly with short-limbed dwarfism, and Peters-Plus syndrome. It is a rare illness that is present at birth (congenital) and affects the way the body processes sugars. It is inherited when both parents pass down a copy of a mutated gene. This syndrome causes a variety of physical abnormalities.
This disorder is a type of congenital disorder of glycosylation (CDG), a group of inherited metabolic disorders that affect the way the body processes sugars (specifically, glycosylation - the attachment of sugar molecules to proteins and lipids). This can lead to multiple symptoms, such as developmental delays, intellectual disability, muscle weakness, seizures, and other health problems. CDGs are caused by gene mutations that play a role in the glycosylation process. The severity of CDG as well as the specific symptoms, can vary greatly depending on the type of gene mutation as well as the extent of the mutation.
How Rare Is Krause Syndrome?
The medical condition known as Krause syndrome is considered rare, and the exact incidence rate is unknown. To date, fewer than 80 documented cases of this syndrome have been reported worldwide.
What Is the Cause of Krause Syndrome?
Peters plus syndrome is caused by changes (mutations) in a gene called B3 GLCT. The B3GLCT gene is responsible for encoding the instructions necessary to produce an enzyme known as beta 3-glucosyltransferase (B3Glc-T). This enzyme is essential in the process of attaching sugar molecules to proteins (glycosylation). Proteins can be modified through the process of glycosylation so that they can carry out a wider range of functions. Most mutations in the B3GALTL gene cause a version of the B3Glc-T enzyme that is too short and does not function. This causes glycosylation to be disrupted. How the absence of a functional B3Glc-T enzyme causes, the symptoms of Kraus syndrome is unknown. However, it is very likely that a problem with glycosylation affects the way many proteins work, which may be a factor in the wide range of symptoms.
What Are the Signs and Symptoms of Krause Syndrome?
As mentioned earlier, Krause syndrome is a rare genetic disorder that impacts numerous parts of the human body. Symptoms and signs that are associated with this condition may include:
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Eye abnormalities, such as clouding of the cornea, glaucoma, and cataracts.
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Unusual facial features, including a flat nasal bridge and a small jaw.
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Abnormalities in the limbs, such as missing or extra fingers or toes or webbing of the fingers or toes.
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Abnormalities in the urinary system, such as malformation of the kidneys or bladder.
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Hearing loss.
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Digestive problems, such as malrotation of the intestines or abnormal liver function.
Not every person who has Peters plus syndrome will exhibit each and every one of these symptoms, and the severity of symptoms can vary significantly between those who are affected by the condition.
However, all individuals with Krause syndrome have short stature, which is noticeable even before birth. Adult males with this condition typically range in height from 141 centimeters to 155 centimeters (4 feet, 7 inches to 5 feet, 1 inch), while adult females range from 128 centimeters to 151 centimeters (4 feet, 2 inches to 4 feet, 11 inches). In addition to short stature, individuals with this syndrome may also have shortened upper limbs (rhizomelia) and shortened fingers and toes (brachydactyly).
In addition, children with Krause syndrome usually experience delays in developmental milestones like walking and speaking, and many of them also have intellectual disabilities that can range from mild to severe. It is interesting that the level of intellectual disability is not always related to how severe the physical symptoms of the syndrome are.
In addition to these typical symptoms, some people who have Kraus syndrome may also have less common signs such as heart defects, structural brain abnormalities, hearing loss, and abnormalities of the kidneys or genitalia.
How Is Krause Syndrome Diagnosed?
As it is a syndrome caused by mutations in certain genes, its diagnosis is confirmed by genetic testing, in which mutations are confirmed. This is because genetic testing can confirm a diagnosis of Kraus syndrome by detecting mutations in the B3GALTL gene. This testing is typically performed using a blood sample or other tissue sample from the affected individual. In some circumstances, genetic testing may also be performed on family members of the affected individual to find out if they are at risk of inheriting the condition.
Imaging studies, such as X-rays and MRI (magnetic resonance imaging) scans, may also be used to help diagnose Peters plus syndrome by identifying structural abnormalities in the bones and organs of the body. These studies can also be used to monitor the progression of the condition and identify any complications that may arise.
What Is the Treatment of Krause Syndrome?
The management of Kraus syndrome involves a multidisciplinary approach that focuses on addressing the various physical, developmental, and medical needs of affected individuals.
Regular medical check-ups are essential to monitor the progression of the syndrome and identify any potential complications. For example, individuals with Kraus syndrome may require frequent eye exams to detect and manage vision problems such as cataracts and glaucoma. They may also require hearing tests to identify any hearing loss and speech therapy to address speech delays.
Occupational and physical therapy is also beneficial for enhancing coordination and motor abilities, as well as promoting independence and quality of life. Adaptive equipment and assistive technology may also be recommended to help individuals with Kraus syndrome with routine tasks like eating, dressing, and moving around.
In addition, management of the intellectual disability associated with Kraus syndrome may involve special education services and behavioral therapies to help affected individuals reach their full potential. Counseling and support services may also benefit affected individuals and their families.
There is no cure for Kraus syndrome, and therapy aims to alleviate the symptoms and complications of the syndrome. However, early diagnosis and intervention can help optimize results and enhance the standard of living for affected individuals. Families with the syndrome may also benefit from genetic counseling to better understand the genetics of the condition and their risk of passing it on to their offspring.
Conclusion
To conclude, Kraus syndrome is a rare genetic disorder that impacts the mental and physical growth of the child, thereby severely affecting the quality of life of the affected child. Since it is extremely uncommon, more research is needed to understand more about this disease and its treatment outcomes.
