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What

Aase syndrome is a rare genetic disorder in which infants are born with anemia and joint and skeletal problems. These individuals have a type of anemia called congenital hypoplastic anemia, which means that they are born with a reduced ability to produce red blood cells. In addition, these individuals typically have three bones (called phalanges) within their thumbs when they should normally have two.

Who

Aase syndrome can first be detected in newborn infants. Boys are equally affected as girls. The syndrome does not appear to favor one racial group. Risk factors and the location of the gene responsible for the syndrome has not been discovered to date.

Signs and Symptoms

An infant born with Aase Syndrome can exhibit some or all of the following symptoms:

1. Pale skin.
2. Slowed growth or short stature.
3. Thumbs with 3 joints.
4. Thin fingers with small or absent knuckles.
5. Fewer or reduced skin creases at the finger joints.
6. Inability to fully extend the joints, starting from birth.
7. Cleft palate or lip
8. Deformed ears.
9. Droopy eyelids.
10. Abnormal heart development
11. Webbed neck
12. Enlarged liver and spleen

Possible Causes

The precise cause of Aase syndrome is still known. However, we do know that Aase syndrome is an autosomal dominant inherited disorder, which means that a child will develop the condition if he or she acquires one abnormal copy of a gene from either parent. Also, the anemia that is associated with Aase syndrome is caused by an underdevelopment of bone marrow, which is the soft center of bones where the blood cells are made.

Diagnosis

The initial suspicions of Aase syndrome may be detected on physical examination of the skeletal characteristics. Further diagnosis can be pursued through blood tests, x-rays, an echocardiogram, and bone marrow biopsy. A blood test is taken to determine the complete blood count and the amount of red blood cells and white blood cells in the body. Individuals with Aase syndrome have underdeveloped bone marrow, and thus will have a reduced production of red blood cells and a decreased white blood cell count. In addition, they are born with specific skeletal irregularities as found in the fingers and thumb and delayed closure of the fontanelle (baby’s soft spot) which can be revealed on an x-ray. Lastly, an echocardiogram is taken because people with Aase syndrome may have heart defects that may need to be treated surgically.

Treatment

During the first year of the their lives, children with Aase syndrome will need to have many blood transfusions to treat their anemia. A drug called prednisone can be taken in conjunction with the blood transfusions to help with the anemia. If these forms of treatment do not work, the child may benefit from a bone marrow transplant. Skeletal anomalies are managed and surgically repaired by an orthopedic surgeon if there is significant impairment. Cardiac surgeons help repair the typical defects which include a ventricular septal defect(VSD) which is a hole between 2 compartments of the heart.

Prognosis

The prognosis for children with Aase syndrome is variable. In most cases, the anemia associated with the condition goes away as the child gets older.

Connect with other parents

In the spirit of community and support, Madisons Foundation offers the unique service of connecting parents of children with rare diseases. If you would like to be connected to other parents of children with this disease, please fill out this brief form.

Weblinks

http://www.bdid.com/aase.htm
A good link to a list of many different websites containing information about the disease

Google Search for Aase Syndrome

References and Sources

Genetic Alliance: www.geneticalliance.org Online Mendelian Inheritance In Man (OMIM): www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=OMIM&dopt=Synopsis&tmpl=dispomimTemplate&list_uids=147800 Aase JM, Smith DW. “congenital anemia and triphalangeal thumbs: a new syndrome.” Journal of Pediatrics, 1969; 74(3)L 471-474.