Saethre Chotzen Syndrome: Symptoms, Causes, Treatment, Cost and Side Effects

Saethre Chotzen Syndrome can be defined as premature development of the skull. It belongs to the group of genetic disorders named acrocephalosyndactyly, which states the abnormal development of a full-sized skull. This leads to the improper size of the skull and other organs that are present within.

The disease not only alters the shape and size of the skull, but also affects the overall growth of the brain, eyes, nose, and other elements of a normal human head.

This disease is a genetic abnormality that can be seen at the time of birth of the ultrasound of the fetus.

Summary: Saethre Chotzen Syndrome is a genetic disorder that hinders the natural growth of the skull.

Symptoms of Saethre Chotzen Syndrome are mostly situated in the head region. But they can also be situated in the hands, fingers, and toe region. Since most of them are physical in nature, one can see the deformations without any medical study. Mention below the list of signs that you see to diagnose the presence of Saethre Chotzen Syndrome:

• Craniosynostosis
• Distinctive fingers, toes, and facial variations
• Plagiocephaly and facial asymmetry
• Trigonocephaly
• Drooping of the upper eyelids (ptosis)
• Intracranial pressure
• Broad forehead with a low hairline
• Beaked nose
• Hypoplastic maxilla or relative mandibular prognathism
• Depressed nasal bridge
• Deviated nasal septum
• Midface hypoplasia
• Ocular
• Ocular hypertelorism
• Shallow eye cavities
• Strabismus
• Lacrimal duct stenosis
• Mild hearing impairment
• The arched roof of the mouth
• Absence or malformation of certain teeth
• Malocclusion
• Cleft palate
• Cutaneous syndactyly
• Brachydactyly
• Clinodactyly
• Broad and deviating great toes
• Clavicles
• Cervical vertebrae
• Coxa valga
• Radioulnar synostosis
• Cryptorchidism
• Limited extension of the elbows or knees,
• Kidney or heart defects

Summary: Symptoms of Saethre Chotzen Syndrome are visible in children since birth and are easy to look for as most of them are located in the head region.

While most of the genetic disorders happen due to default in one gene. The scientist has found two forms of the gene mutation that can lead to Saethre Chotzen Syndrome.

The first one is the TWIST1 gene mapped with the short arm (p) of chromosome 7 (7p21). This type of genetic mutation is responsible for the majority of cases of Saethre Chotzen Syndrome. It is not, however, appropriate in all circumstances. Some people with the same mutation don't have the same symptoms.

Some cases that are facing the same mutation do not show the same symptoms. The second one is quite rare, only a few cases of Saethre Chotzen Syndrome have been diagnosed with FGFR2 gene mutation.

Both of the genetic variants are autosomal dominant. This states that it takes only one active or non-active form of the mutated gene to develop Saethre Chotzen Syndrome in the fetus.

If the receiver's parents or any of the bloodline family members have the deformation. The kids have a 50/50 probability of inheriting the active version of the illness.

Summary: Saethre Chotzen Syndrome can be developed due to mutation of either TWIST1 or FGFR2. Both of the genes are autosomal dominant in their nature of development.

The diagnosis of Saethre Chotzen Syndrome starts from collecting information about medical and family history. They also analyze the physical symptoms and match them with different forms of genetic disorders to identify the type. Once they come up with suitable possibilities molecular genetic testing will be conducted to confirm the presence of either TWIST1 or FGFR2 Mutated gene.

For more detailed information, the doctor will also conduct a full body checkup to know the health of internal body functioning. This also includes screening tests like X-rays and CT scans.

Summary: Diagnoses of Saethre Chotzen Syndrome are based on confirming the presence of the mutated gene and taking a check-up of the internal functioning of the body.

Medical conditions such as Saethre Chotzen Syndrome are genetic in nature which means they cannot be prevented. The nature of such diseases is irreversible and cannot be cured or prevented once developed.

Summary: Any form of a preventive technique used for Saethre Chotzen Syndrome is not efficient. Genetic abnormalities cannot be treated or prevented once developed in the human body.

To minimize additional difficulties, Saethre Chotzen Syndrome should be addressed as soon as feasible. So when you are diagnosed with the disease, you must seek medical attention.

Summary: If you or any newborn is experiencing signs of Saethre Chotzen Syndrome consult the medical practitioner on an urgent basis.

No, genetic abnormalities like Saethre Chotzen Syndrome cannot go away on their own. The disease needs immediate medical attention to conduct early treatment and diagnoses.

Summary: Diseases like Saethre Chotzen Syndrome do not go away on their own.

Since there is no permanent solution for diseases like Saethre Chotzen Syndrome, the treatment will majorly focus on disease management. In this case, multiple surgeries will be conducted to reshape different facial and body deformities.

On the side, a team of ophthalmologists, orthopaedics, orthodontics, and the audiologist will work on your eyes, teeth, skeletal and ear damage caused by genetic deformations.

They use therapeutics and therapies to manage the original shape, location, and function of the specific organ. For the psychological side of the disease, a psychiatrist will be working with both children and their guardians.

Summary: The treatment of Saethre Chotzen Syndrome includes medications, counseling, and multiple therapies. This will aid the patient is having a better facial shape and placement.

No specific diet plan can help you recover from the damage of a genetic mutation. Approach your medical professional to know more about the best-suited diet for Saethre Chotzen Syndrome. Especially for infants, it is important to know the conventional method of feeding the baby.

Summary: Specific diet plans are not yet designed for genetic disorders like Saethre Chotzen Syndrome.

There is no diet that has been created to help in the treatment of Saethre Chotzen Syndrome. Consult your doctor to get information regards diet for the younger or older patients with Saethre Chotzen Syndrome.

Summary: Specific diet plans are not defined for genetic disorders like Saethre Chotzen Syndrome.

Side effects of Saethre Chotzen Syndrome treatment are concentrated on the medical composition of therapeutics that are used to treat and the surgeries to reshape the facial features. As per the therapeutics are concerned, the side effects of the treatment plan vary with each patient.

If you are experiencing side effects after medicine or surgery, contact your doctor as soon as possible:

• Fever higher than 101 degrees
• Vomiting
• Symptoms of headache
• Irritability
• Redness and swelling along with the incision areas
• Decreased alertness and symptoms of being tired

Summary: Repercussions of the treatment used for Saethre Chotzen Syndrome depend on individual symptoms, medical composition, and surgical methods.

Yes, cases of Saethre Chotzen Syndrome cannot be ignored. The sickness needs quick medical treatment since it has the potential to progress into something more dangerous if not treated promptly. So it is important to consult your doctor to have proper treatment.

Summary: Medical condition like Saethre Chotzen Syndrome needs immediate medical attention.

Saethre Chotzen Syndrome does not have a recovery period due to its inheritance in our bodies. Genetic abnormalities of such manner do not have a cure, so there is no recovery period of the same.

Summary: Genetic abnormalities like Saethre Chotzen Syndrome do not have a cure or a set time of recovery.

Saethre Chotzen Syndrome costs include many doctor consultations, therapeutics, surgery, and post-surgery care. Because of a lack of resources, hereditary illnesses such as Saethre Chotzen Syndrome can be costly to treat. Depending on the symptoms and needs, it might range from 10,000 to 2 lakh every month.

Summary: In India, the cost of Saethre Chotzen Syndrome might be prohibitively high. It can range from 10,000 to 2 lakh per month.

There is no physical exercise that can help you with the recovery of Saethre Chotzen Syndrome. Rather adequate rest and minimal movement would be helpful for better recovery.

Summary: No physical exercise is advised under Saethre Chotzen Syndrome.

Saethre Chotzen Syndrome cannot be treated with a specific course of medicine or therapy with long-term consequences. The treatments will be combined based on the symptoms, surgery, and medical history of each patient. Ascertain that your doctor is aware of any allergies you may have to any of the components in your medications.

Summary: No therapy regimen has been established to cure or control Saethre Chotzen Syndrome.

Genetic disorders like Saethre Chotzen Syndrome cannot be recovered due it its inheritance in the human body. So the result of treatment cannot be permanent.

Summary: Saethre Chotzen Syndrome does not have a cure, so there is no permanent recovery.

Saethre Chotzen Syndrome treatment does not have any alternative set of treatment. Medications that are used for this disease do not have an alternative. But if you are allergic to any compound present, you can always ask for different medications.

Summary: There is no alternative present to completely cure Saethre Chotzen Syndrome.

People who are suffering from Saethre Chotzen Syndrome are suitable for the treatment. Also, individuals with the same set of symptoms are can seek treatment.

Summary: Individuals with identical symptoms of Saethre Chotzen Syndrome are eligible for the treatment.

People who are not suffering from Saethre Chotzen Syndrome are not suitable for the treatment. Also, individuals with different sets of symptoms cannot select the treatment.

Summary: Individuals with non-identical symptoms of Saethre Chotzen Syndrome are not eligible for the treatment.

Saethre Chotzen Syndrome seems to have no cure, thus therapy will continue as long as the patient lives. As a result, the patient's sole strict instruction is to follow the prescription.

Summary: Because the illness is permanent, there is no way to cure it, which means there are no post-treatment protocols to follow.

Summary: Saethre Chotzen Syndrome can be defined as premature development of the skull. It is part of the acrocephalosyndactyly category of genetic diseases, which refers to the aberrant development of a full-sized skull. Saethre Chotzen Syndrome symptoms are obvious in children from birth and are simple to spot because the majority of them occur in the head area. It developed as a result of a TWIST1 or FGFR2 mutation. In terms of development, both genes are autosomal dominant. Medication, counseling, and multiple treatments are used to treat Saethre Chotzen Syndrome. This will aid the patient in ensuring a better facial shape and placement.