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Aase syndrome

Aase syndrome

Aase syndrome is a rare disorder that involves anemia and certain joint and skeletal deformities.

Aase syndrome or Aase–Smith syndrome is a rare inherited disorder characterized by anemia with some joint and skeletal deformities. Aase syndrome is thought to be an autosomal dominant inherited disorder. The genetic basis of the disease is not known.

Causes

Many cases of Aase syndrome occur without a known reason and are not passed down through families (inherited). However, some cases (45%) have been shown to be inherited. These are due to a change in 1 of 20 genes important for making protein correctly (the genes make ribosomal proteins).

This condition is similar to Diamond-Blackfan anemia, and the two conditions should not be separated. A missing piece on chromosome 19 is found in some people with Diamond-Blackfan anemia.

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

Symptoms

Symptoms may include:

Absent or small knuckles

Cleft palate

Deformed ears

Droopy eyelids

Inability to fully extend the joints from birth

Narrow shoulders

Pale skin

Triple-jointed thumbs

Exams and Tests

The health care provider 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 medicine 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 provider who has experience treating anemias.

A bone marrow transplant may be necessary if other treatment fails.

Outlook (Prognosis)

The anemia tends to improve with age.

Possible Complications

Complications related to anemia include:

Fatigue

Decreased oxygen in the blood

Weakness

Heart problems can lead to a variety of complications, depending on the specific defect.

Severe cases of Aase syndrome have been associated with stillbirth or early death.

Prevention

Genetic counseling is recommended if you have a family history of this syndrome and wish to become pregnant.

Alternative Names

Aase-Smith syndrome; Hypoplastic anemia - triphalangeal thumbs, Aase-Smith type; Diamond-Blackfan with AS-II

Timeline

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