Aase syndrome: symptoms, causes, drugs, etc. • hello healthy

Definition

What is Aase syndrome?

Aase syndrome is a rare genetic disorder that can be determined in early infancy. This syndrome is most often characterized by the presence of three bones in the thumb in the thumb (triphalangeal thumb) and a lack of red blood cell production (hypoplastic anemia).

However, in some cases, additional abnormalities can be found. Until now, the exact cause of this disease is not yet known. However, most evidence suggests that this disorder is inherited as an autosomal recessive trait.

How common is Aase syndrome?

This syndrome, also known as Aase-Smith syndrome, is classified as a rare disease or disorder. The number of cases itself is unknown because those who were mildly affected were not well diagnosed.

Consult with your doctor to find out more about this and prevention.

Signs and Symptoms

What are the signs and symptoms of Aase's syndrome?

There are a large number of signs and symptoms of this condition. The most common symptoms that are usually encountered in patients with Aase's syndrome are:

• The knuckles or knuckles are small or even there are no knuckles
• The palate is cracked
• Reduced skin folds at finger joints
• Ear defects
• Dropped eyelids
• Inability to fully extend the joint from birth (contracture deformity)
• Narrow shoulders
• Pale skin
• Thumb with three knuckles (three finger joints)

When should I see a doctor?

Early diagnosis and treatment can prevent this condition from worsening as well as other medical emergencies. So, consult a doctor as soon as possible to prevent this serious condition.

If you have any questions, consult your doctor. Everyone's body reacts differently. It is always best to discuss what is best for your situation with your doctor.

Cause

What causes Aase-Smith syndrome?

In most cases, Aase-Smith syndrome occurs for no apparent reason and is not inherited in the family (not genetically inherited). However, in some cases it has been shown that this syndrome can also run in families.

This condition is similar to Diamond-Blackfan's anemia, and the two cannot be separated. Some people with Diamond-Blackfan anemia and people who have Aase's syndrome both have an incomplete chromosome 19.

Anemia in Aase-Smith syndrome is caused by impaired bone marrow development, which is where blood cells form.

Triggers

What makes a person more likely to develop Aase's syndrome?

You can be at a higher risk of developing this condition if you have family members who also have the condition.

Diagnosis and Treatment

The information provided is not a substitute for medical advice. ALWAYS consult your doctor for more information.

How is Aase syndrome diagnosed?

If your doctor suspects that you have Aase's syndrome, he or she will run a thorough examination to determine this condition because it seems difficult to detect it. Your doctor will do a thorough physical examination, discuss the type of symptoms you are experiencing, and ask some questions about any signs and symptoms you are experiencing.

Some further tests may also be done to determine whether you really have this syndrome or not. The tests you may undergo include:

Bone marrow biopsy

Bone marrow biopsy is the removal of a small amount of marrow from the bone. Bone marrow is the soft tissue inside bones that helps form blood cells.

Complete Blood Count (CBC)

A complete blood count (CBC) test primarily measures the following:

• Red blood cell count (Red Blood Count / RBC)
• White blood cell count (WBC)
• The total amount of blood hemoglobin
• A blood fraction consisting of red blood cells (hematocrit)

X-ray or echocardiogram

Imaging tests can also be done to detect this condition, one of which is to do x-ray . If this is not sufficient, your doctor may order an echocardiogram. An echocardiogram is a test that uses sound waves to produce images of the heart. The resulting image and information is more detailed than the image x-ray standard.

What are the treatments for Aase's syndrome?

Treatment may include blood transfusions in the baby's first year to treat anemia.

Steroid drugs, such as prednisone, have also been used to treat anemia associated with this syndrome. However, this drug should only be used if you have reviewed the benefits and risks with a doctor who is experienced in treating anemia.

Bone marrow transplant may also be needed if other treatments have failed.

However, there are some complications related to anemia, namely:

• Tired and limp body
• Decreased oxygen in the blood
• Heart problems that can cause various complications, depending on what kind of abnormality you are experiencing

Severe cases of Aase's syndrome have been linked to stillbirths, babies who die in the womb when they are more than 20 weeks old. stillbirth) as well as death in babies who have been born.

Prevention

What can I do at home to treat Aase's syndrome?

It is highly recommended that you go to counseling with a geneticist if you have a family history of this syndrome and are planning to become pregnant.

If you have any questions, consult your doctor to understand the best solution for you.

Hello Health Group does not provide medical advice, diagnosis or treatment.