Schinzel Type: Causes, Symptoms, Complications, And Treatment

Acrocallosal syndrome is also known by the name of Schinzel type can be described as a rare genetic disorder in which the thick band of nerve fibres joining the two hemispheres of the brain is either absent or underdeveloped. It can be found at the time of birth as it affects the baby both physically and mentally.

It can cause mental retardation, and abnormalities in the physical structure of the skull, face, fingers, and toes. Its transmission is autosomal recessive which means both parents need to have the default deactivated gene to transfer the active one into their offspring.

Summary: Schinzel type is a rare genetic disorder. It may lead to mental and physical abnormalities in an affected person. The condition is extremely critical and doesn’t have a cure as of now as it is transferred through genes.

Symptoms of Schinzel Type can be seen as most of them are physical. The disorder not only affects the structure and function of the brain but also affects the whole body. From tip to toe, you can see the symptoms of Schinzel Type, some of them are:

• Moderate to severe mental retardation
• Seizures
• Hypotonia
• Craniofacial
• Macrocephaly
• Midface hypoplasia
• Abnormal anterior fontanelle
• Small, short nose
• Broad nasal bridge
• Anteverted nares
• Posteriorly rotated
• Protruding lips
• Cleft lip
• Ocular hypertelorism
• Palpebral fissures
• Epicanthal folds
• Ptosis
• Convergent strabismus or esotropia
• Decreased retinal pigmentation
• Optic atrophy
• Halluces
• Preaxial polydactyly
• Bifid terminal phalanges
• Postaxial polydactyly
• Syndactyly
• Congenital heart defects
• Atrial or ventricular septal defects
• Inguinal or umbilical hernia
• Cryptorchidism
• Hypospadias
• Micropenis
• Dyspnea
• Hypoxia

Summary: There are numerous symptoms that may help in determining Schinzel Type. The disorder affects a person in both ways- physically and mentally.

Inheritance of the mutated gene known as GLI3 can be the root cause of the disorder. If both of the parents have abnormal but deactivated GLI3 genes. Then it can get activated in the body of your child. Gene mutations of this form are known as Autosomal recessive disease. It is a pattern of inheritance where the affected individual possesses two copies of the mutant gene. This disorder is only passed when both of the parents are inherited with the same mutations in the DNA.

This can also happen if one copy of the gene is dominant and one copy is recessive. The chances of getting affected by the genetic mutation can be different, for example, there is a 25% chance that a child may turn out to be normal with no mutation whatsoever or become get affected with two recessive genes, but in this case, there is a 50% chance that the offspring will become a carrier of the disease with no such medical condition.

Summary: The root cause of Schinzel Type is the inheritance of the mutated gene known as GLI3. This is an Autosomal recessive disease, which derives its development in an individual body.

The diagnosis of the Schinzel Type may start at the time of pregnancy if one or both of the parents have any medical or family history of it. If yes, the newborn will be kept under observation for a few days where the doctors conduct all the testing and medical care.

The testing can include MRI, CT scan, fetography, alongside a molecular genetic test to confirm the mutations in the GLI3 gene.

Summary: Your medical professional will start with a physical assessment followed by your medical history and family background.

A genetic disorder cannot be prevented, However, one can have a thorough diagnosis before making any decision associated with family planning, or pregnancy in general.

Summary: Schinzel Type is hard to prevent in an individual. This is because the cause of the disease is genetic which makes it irreversible.

If you experience any of the symptoms that are associated with Schinzel Type, consult your doctor to have an accurate diagnosis of the disease. The diagnosis will include a detailed analysis of medical and family history alongside a general physical examination followed by medical testing and screenings.

Summary: Check for the above-mentioned symptoms and consult your doctor immediately if you witness relatable symptoms. Immediate treatment is required as it can put your life in danger.

Schinzel Type is a genetic disorder. It can’t go away permanently. The symptoms can be treated by undergoing treatment. For this, one can consult an expert. The conditions can be well managed by the expert team.

There is no specific treatment plan designed to treat this medical condition. However, the symptoms can be treated via advanced medical facilities. The treatment may include medication, therapy, and other treatments to decrease the discomfort and pain. So it is recommended to consult your medical professional in case you notice any symptoms.

Summary: Unfortunately, the nature of the disease is genetic. It means- it is incurable! But the persisting symptoms can be treated separately by undergoing the right treatments and therapies.

To reign in the optimum body energy and fat, your doctor will ask you to have a wholesome diet. Add all the essential vitamins, minerals, and other nutrients into your diet as recommended by your medical professional.

There is no specific diet designed for Schinzel Type. However, you can ask your medical professional if specific food requirements that you need to avoid during treatment.

The side effects of the treatment may depend on the type of medication you are on. Since the disease is quite diverse in its effects, the medication can be high in its effectiveness which may feel too strong sometimes.

Summary: Your current health condition and medication determine the side effects of the treatment.

Yes, genetic disorders of this form need to be addressed as soon as possible to know what causes the symptoms and have early detection and treatment of the same. If not controlled or managed on time, it can cause a critical life situation which can also lead to permanent damage to the body or even death.

Summary: If you notice any abnormalities in your health condition or if your health is deteriorating unexpectedly, then it is the right time to seek medical advice.

Since there is no spot for a complete cure of an individual in the case of Schinzel Type. This is because the nature of the disease is genetic which makes it impossible to reverse.

Summary: The treatment of the disease merely depends on each case and the method of treatment that has been selected to do so. But since it is a genetic disorder, one may find it hard to look for 100% recovery.

The treatment of Schinzel Type includes consultation, therapeutic or surgical treatment, and medication that can support the adequate functioning of a human body. The total cost that may take to manage the heath under such conditions can sum up to 10 - 20 lac per annum.

Summary: From doctor consultation to surgery the cost of the treatment can sum up to 10 - 20 lac per year.

Physical exercises can’t be helpful in treating the Schinzel Type. It is a genetic condition that can not be treated via any medication or therapy. But one can minimize the symptoms by taking the right treatment from the right doctor. Physical exercise can only maintain your lifestyle and regular health. It is incapable of treating genetic disorders.

Summary: No physical exercise can treat the genetic disorder. One can only maintain a healthy lifestyle by following a fitness regime.

As of now, there is no medicine available for treating genetic diseases like Schinzel Type. The medicines that are available can only reduce the severity of the associated symptoms.

Summary: Genetic disorders are generally incredible. They can’t be treated by medicines or therapies. However, the severity of the disease can be reduced.

Results of the treatment on the genetic diseases can’t be permanent. They are only temporary and only last till the treatment goes on. The symptoms might re-appear in case you stop the treatment.

Summary: No, the results of the treatment are not permanent one may get relapse if the treatment is postponed or eliminated at any point in time in your life.

There is no alternative to the treatment that is associated with the management of the disease. However, you can always ask your medical professional if you are not satisfied with your current mode of treatment.

Summary: Since there is no specific treatment plan available, your doctor will make one based on your existing symptoms. So there is no alternative present at the current moment.

People who are suffering from Schinzel Type are eligible for the treatment. Also, people with the same set of symptoms mentioned above can consult a doctor for diagnosis and treatment plans.

People who are not suffering from Schinzel Type are not eligible for the treatment.

There are no post guidelines as such. The affected individual must continue taking the prescribed medicines and therapies in order to reduce the severity of the disease.

Summary: Schinzel Type can be described as a genetic disorder that affects the growth of your overall physical and mental body. Mutation in the GLI3 gene can lead to Schinzel Type. Affected individuals started to have many physical and mental conditions that can be diagnosed at the time of birth only. The treatment plan for such disorders has not been found yet, however, there are certain things that one can do in order to ease the discomfort.