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.

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