Aase syndrome or Aase–Smith syndrome is a rare inherited disorder characterized by anemia with some joint and

skeletal A skeleton is the structural frame that supports the body of an animal. There are several types of skeletons, including the exoskeleton, which is the stable outer shell of an organism, the endoskeleton, which forms the support structure inside ...

deformities. Aase syndrome is thought to be an autosomal dominant inherited disorder. The genetic basis of the disease is not known. The anemia is caused by underdevelopment of the

bone marrow Bone marrow is a semi-solid tissue found within the spongy (also known as cancellous) portions of bones. In birds and mammals, bone marrow is the primary site of new blood cell production (or haematopoiesis). It is composed of hematopoietic ce ...

, which is where blood cells are formed. It is named after the American paediatricians

Jon Morton Aase Jon is a shortened form of the common given name Jonathan, derived from "YHWH has given", and an alternate spelling of John, derived from "YHWH has pardoned".David Weyhe Smith, who characterized it in 1968.

Signs and symptoms

Among the presentation are: * Mildly slowed growth * Pale skin * Delayed closure of fontanelles (soft spots) * Narrow shoulders * Triple jointed thumbs, absent or small knuckles, decreased skin creases at finger joints * Inability to fully extend the joints from birth (congenital contractures) * Cleft palate * Deformed ears * Droopy eyelids

Complications

* Complications related to anemia include weakness, fatigue, and decreased oxygenation of the blood. * Decreased white blood cells alter the body's ability to fight infection. * If a heart defect exists, it may cause multiple complications (depending on the specific defect). * Severe cases have been associated with still birth or early death.

Cause

Some cases of Aase syndrome (45%) have been shown to be inherited, and are due to a change in one gene which makes ribosomal proteins. However, many cases are not inherited and occur without a known cause.

Diagnosis

* A CBC ( complete blood count) will show anemia and a decrease in the

white blood cell White blood cells, also called leukocytes or leucocytes, are the cell (biology), cells of the immune system that are involved in protecting the body against both infectious disease and foreign invaders. All white blood cells are produced and de ...

count. * An echocardiogram may reveal heart defects ( ventricular septal defect is most common). * X-rays will show skeletal abnormalities as described above. * A bone marrow biopsy may be performed.

Prevention

As with most genetic diseases there is no way to prevent the entire disease. With prompt recognition and treatment of infections in childhood, the complications of low white blood cell counts may be limited.

Treatment

Frequent blood transfusions are given in the first year of life to treat anemia. Prednisone may be given, although this should be avoided in infancy because of side effects on growth and brain development. A bone marrow transplant may be necessary if other treatment fails.

Prognosis

Anemia usually resolves over the years.

References

External links

{{Medical resources , DiseasesDB = 29332 , ICD10 = , ICD9 = , ICDO = , OMIM = 147800 , MedlinePlus = 001662 , eMedicineSubj = , eMedicineTopic = , Orphanet = 916 Genetic disorders with OMIM but no gene Syndromes affecting blood Syndromes with cleft lip and/or palate