Aase syndrome

Aase syndrome: Description, Causes and Risk Factors

Aase syndromeAase syndrome is a very rare disorder which is inherited. People who suffer from this condition often have severe anemia and various joint and skeletal deformities. If terated, Aase syndrome is not typically life threatining though the deformities are permanent.

Most cases of Aase syndrome occur without a known reason and are not passed down through families (inherited). However, some cases have been shown to be inherited.

The anemia in Aase syndrome is caused by poor development of the bone marrow, which is where blood cells are formed.

People who are born with Aase syndrome will typically have pale skin. Their soft spot will take longer than normal to close up after birth, and they often have narrow shoulders. Other common symptoms include triple jointed thumbs, knuckles on the other fingers which are either small or absent all together and the inability to fully extend most or all of their joints. Some people will have deformed ears and droopy eyelids though this is not always the case. Many people with Aase hands have what appear to be a fiver fingers rather than four and a thumb. This can cause problems with some people when attempting to pick things up, or write, though with therapy most of the time these things can be overcome.

Complications related to anemia include weakness, fatigue, and decreased oxygenation of the blood. Heart problems can lead to a variety of complications, which depend on the specific defect. Severe cases of Aase syndrome have been associated with still birth or early death.

Symptoms

Deformed ears.

  • Droopy eyelids.
  • Absent or small knuckles.
  • Cleft palate.
  • Decreased skin creases at finger joints.
  • Inability to fully extend the joints from birth (contracture deformity).
  • Narrow shoulders.
  • Pale skin.
  • Triple-jointed thumbs.

Diagnosis

Signs may include:

Delayed closure of soft spots (fontanelle).

  • Mildly slowed growth.

Your PCP will perform a physical exam. Tests that may be done include:

Bone marrow biopsy.

  • Complete blood count (CBC).
  • Echocardiogram.
  • X-rays.

Treatment

Treatment may involve blood transfusions in the first year of life to treat anemia. A steroid medication called prednisone has also been used to treat anemia associated with Aase syndrome. However, it should only be used after reviewing the benefits and risks with a doctor who has experience treating anemias. A bone marrow transplant may be necessary if other treatment fails.

Call your health care provider if you notice possible signs of Aase syndrome in your child. Genetic counseling is recommended if you have a family history of Aase syndrome. Genetic counseling can help families understand issues such as how the disease is inherited, and the care, treatment, and possible outcome of the patient.

NOTE: The above information is for processing purpose. The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition.

DISCLAIMER: This information should not substitute for seeking responsible, professional medical care.

0 Comments

Submit a Comment

Your email address will not be published. Required fields are marked *

This site uses Akismet to reduce spam. Learn how your comment data is processed.

Cart Preview

Regular Bedtime Linked to Better Heart Health and Metabolism

Regular Bedtime Linked to Better Heart Health and Metabolism

According to a recent study, completed by the scientists from the Duke University Medical Center in Durham, USA, regular bedtime is important for heart health and metabolism. A team of scientists examined the sleeping patterns of approximately 2,000 adults aged...

Regular Walking May Reduce Stroke Severity

Regular Walking May Reduce Stroke Severity

A new study, conducted by the scientists from the University of Gothenburg in Sweden, finds that light and moderate physical activity, for example walking and swimming, may help reduce the stroke severity. The study included approximately data from 1,000 individuals...

[WpProQuiz 1]

Featured Products

The 5 Best Accessories for Sports Fans

It is very entertaining to be a sport fan. There is a big variety of sport games that are extremely interesting to follow. Moreover, it is always fun to anticipate the score and watch the enthusiasm live. One of the benefits of being sports fan is using different...

read more

Exercise May Serve as an Antidepressant

A new study of nearly 18,000 participants found that those with high fitness at middle age were significantly less likely to die from heart disease in later life, even if they were diagnosed with depression. Doctor's Tips: How to Stay Fit While Treating Depression Dr....

read more

Fitness: Warm Ups Can Chill Out the Perfomance

The warm ups are supposed to increase body temperature and blood flow so the muscles and surrounding joints become more responsive and prepared for physical activity. Although there’s a neurological element to warm-ups, most research focuses on the physiological...

read more