Rare Genetic Diseases an Overview of Aase Smith Syndrome

Aase-smith syndrome is a rare genetic disorder thought to be inherited as an autosomal recessive disease. This would mean that both parents should carry a single recessive gene each which can give rise to the disease, once they become a pair in the affected children. In such instances, one in four children born to these parents would end-up developing Aase-smith syndrome.

How was it discovered?

First described in the year 1968, it was named after its two American discoverers, Pediatrician Jon Morton Aase and Pediatrician David Weyhe Smith. The disease is also known in several other terms and these include Aase-Smith Syndrome II, Congenital Anemia and Triphalangeal Thumbs, and Hypoplastic Anemia-Triphalangeal Thumbs, Aase-Smith Type. However, all these describe the same manifestation although some terms highlight its characteristic findings in order to avoid confusion.

What are the symptoms of Aase-Smith Syndrome?

The disease is usually apparent at birth and in severe cases; the disease can cause still births or early neonatal death. However, the characteristic feature of this disorder will be the presence of a triphalengeal thumb. This means that the thumb contains three bones instead of two and therefore will be having two joints instead of one. At the same time, these children will appear pale due to poor production of red blood cells in the bone marrow and this (the anemia) is the other characteristic feature of this disease.

Apart from the above manifestations, these children could also present with slow growth rate, delay in the closure of fontenelles (the shoft spots on the head seen in the new borne), narrow shoulders, congenital contractures (inability to extend a joint), cleft palate, deformed ears or drooping of the eyes. At the same time, heart defects could also associate with Aase-smith syndrome.

What are the useful investigations in Aase-Smith Syndrome?

However, these findings need to be verified though a blood count which will show the marked anemia and the reduced white blood cell count. X-ray will show abnormal bone and joint formations. Furthermore, bone marrow studies will indicate the possible bone marrow suppression leading to anemia and low white cell counts. An echocardiogram will also be useful to exclude any heart defects which could be part of the disease process.

What are the treatment options available?

Following its diagnosis, patients suffering from Aase-smith syndrome should be given frequent blood transfusion in the early years of life. According to researchers the anemia will gradually settle and no more blood transfusions would be required from this point onwards. However, bone deformities and other deformities such as the ones existing in the heart would require surgical interventions in order to increase the quality of life as well as for survival.