Aase syndrome or Aase-Smith syndrome is a rare inherited disorder characterized by anemia

Anemia

Anemia is a decrease in number of red blood cells or less than the normal quantity of hemoglobin in the blood. However, it can include decreased oxygen-binding ability of each hemoglobin molecule due to deformity or lack in numerical development as in some other types of hemoglobin...

 with some joint and skeletal

Skeleton

The skeleton is the body part that forms the supporting structure of an organism. There are two different skeletal types: the exoskeleton, which is the stable outer shell of an organism, and the endoskeleton, which forms the support structure inside the body.In a figurative sense, skeleton can...

 deformities. Aase syndrome is thought to be an autosomal

Autosome

An autosome is a chromosome that is not a sex chromosome, or allosome; that is to say, there is an equal number of copies of the chromosome in males and females. For example, in humans, there are 22 pairs of autosomes. In addition to autosomes, there are sex chromosomes, to be specific: X and Y...

 recessive inherited disorder. The genetic basis of the disease is not known. The anemia is caused by underdevelopment of the bone marrow

Bone marrow

Bone marrow is the flexible tissue found in the interior of bones. In humans, bone marrow in large bones produces new blood cells. On average, bone marrow constitutes 4% of the total body mass of humans; in adults weighing 65 kg , bone marrow accounts for approximately 2.6 kg...

, which is where blood cells are formed.

It is named after the American paediatricians Jon Morton Aase and David Weyhe Smith

David Weyhe Smith

David Weyhe Smith was an American pediatrician and dysmorphologist.Smith was born in Oakland, California. He gained his medical degree from Johns Hopkins University School of Medicine and worked with Lawson Wilkins in the field of pediatric endocrinology...

, who characterized it in 1968.

Symptoms

• 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

Signs and tests

• A CBC (complete blood count
  Complete blood count
  A complete blood count , also known as full blood count or full blood exam or blood panel, is a test panel requested by a doctor or other medical professional that gives information about the cells in a patient's blood...
  
  ) will show anemia and a decrease in the white blood cell
  White blood cell
  White blood cells, or leukocytes , are cells of the immune system involved in defending the body against both infectious disease and foreign materials. Five different and diverse types of leukocytes exist, but they are all produced and derived from a multipotent cell in the bone marrow known as a...
  
   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
  Biopsy
  A biopsy is a medical test involving sampling of cells or tissues for examination. It is the medical removal of tissue from a living subject to determine the presence or extent of a disease. The tissue is generally examined under a microscope by a pathologist, and can also be analyzed chemically...
  
   may be performed.

Treatment

Frequent blood transfusion

Blood transfusion

Blood transfusion is the process of receiving blood products into one's circulation intravenously. Transfusions are used in a variety of medical conditions to replace lost components of the blood...

s 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

Bone marrow transplant

Hematopoietic stem cell transplantation is the transplantation of multipotent hematopoietic stem cell or blood, usually derived from bone marrow, peripheral blood stem cells, or umbilical cord blood...

may be necessary if other treatment fails.

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.

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.