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 autosomaldominant 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. A genetic disorder, or genetic disease is a disease caused, at least in part, by the genes of the person with the disease. ... This article discusses the medical condition. ... In biology, the skeleton or skeletal system is the biological system providing support in living organisms. ... 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. ...
A complete blood count (CBC) or full blood count (FBC) is a test requested by a doctor or other medical professional that gives information about the cells in a patients blood. ... White blood cells (also called leukocytes or immune cells) are a component of 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. ... 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. Blood transfusion is the taking of blood or blood-based products from one individual and inserting them into the circulatory system of another. ... Bone marrow transplantation (BMT) 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 Pediatr73 (4): 606-9. PMID 5678002
Aasesyndrome is a rare, autosomal recessive genetic disorder characterized by congenital hypoplastic anemia (CHA) and triphalangeal thumbs (TPT).
Several other physical abnormalities have been described in individuals with Aasesyndrome, including narrow shoulders, hypoplastic radius (underdevelopment of one of the bones of the lower arm), heart defect, cleft lip/palate, and late closure of the fontanelles (soft spots on an infant's skull where the bones have not yet fused).
The specific cause of Aasesyndrome is not known, but recurrence of the condition in siblings implies an abnormal gene is responsible.
However, Aasesyndrome is characterized by the presence of three phalanges within the thumbs (triphalangism), with underdevelopment of the thumb muscles (i.e., thenar muscles).
TAR syndrome is inherited as an autosomal recessive trait.
The Aasesyndrome: hereditary autosomal recessive congenital erythropoiesis insufficiency and triphalangeal thumbs.
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