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. The anemia is caused by underdevelopment of the bone marrow, which is where blood cells are formed. It is named after the American paediatricians Jon Morton Aase and David Weyhe Smith. The Mendelian Inheritance in Man project is a database that catalogues all the known diseases with a genetic component, and - when possible - links them to the relevant genes in the human genome. ... The Disease Bold textDatabase is a free website that provides information about the relationships between medical conditions, symptoms, and medications. ... A genetic disorder, or genetic disease is a disease caused, at least in part, by the genes of the person with the disease. ... Anemia (AmE) or anaemia (BrE), from the Greek () meaning without blood, is a deficiency of red blood cells (RBCs) and/or hemoglobin. ... This article or section does not cite any references or sources. ... An autosome is a non-sex chromosome. ... In genetics, the term dominant gene refers to the allele that causes a phenotype that is seen in a heterozygous genotype. ... Grays Anatomy illustration of cells in bone marrow. ...

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 eye lids

Signs and tests

• A CBC (complete blood count) will show anemia and a decrease in the white blood cell 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.

Schematics of shorthand for complete blood count commonly used by physicians. ... White blood cells or leukocytes are cells which form a component of the blood. ... The echocardiogram is an ultrasound of the heart. ... Interventricular septum: The stout wall separating the lower chambers (the ventricles) of the heart from one another. ... Brain biopsy A biopsy (in Greek: bios = life and opsy = look/appearance) is a medical test involving the removal of cells or tissues for examination. ...

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. Donating blood Blood transfusion is the process of transferring blood or blood-based products from one person into the circulatory system of another. ... Bone marrow transplantation or hematopoietic stem cell transplantation (HSCT) is a medical procedure in the field of hematology and oncology that involves transplantation of hematopoietic stem cells (HSC). ...

Prognosis

Anemia usually resolves over the years.

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.

References

• Aase JM, Smith DW (1968). "Dysmorphogenesis of joints, brain, and palate: a new dominantly inherited syndrome". J Pediatr 73 (4): 606-9.  PMID 5678002