Aase-Smith syndrome II
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  Aase-Smith syndrome II



Aase-Smith syndrome II

    A genetic disorder that may be detected during early infancy and is characterized by the presence of three bones (phalanges) within the thumbs (triphalangeal thumbs) rather than the normal two and abnormally reduced production of red blood cells (hypoplastic anemia). The exact cause of the syndrome is unknown. However, most evidence suggests that the disorder is inherited as an autosomal recessive trait. The syndrome is named for the American dysmorphologists (birth-defect experts) Jon Aase and David W. Smith. Alternative names for the syndrome include: Anemia and triphalangeal thumbs Congenital anemia and triphalangeal thumbs Hypoplastic anemia-triphalangeal thumbs, Aase-Smith type.

RELATED TERMS
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Genetic
Hereditary. Having to do with the genes.

Infancy
Babyhood; the period of development between birth and the beginning of early childhood between the ages of two and three years.

Blood
The life-maintaining fluid which is made up of plasma, red blood cells (erythrocytes), white blood cells (leukocytes), and platelets; blood circulates through the body's heart, arteries, veins, and capillaries; it carries away waste matter and carbon dioxide, and brings nourishment, electrolytes, hormones, vitamins, antibodies, heat, and oxygen to the tissues.

Syndrome
A grouping of signs and symptoms, based on their frequent co-occurrence, that may suggest a common underlying pathogenesis, course, familial pattern, or treatment selection.

Autosomal
"Pertaining to a chromosome that is not a sex chromosome; relating to any one of the chromosomes save the sex chromosomes. People normally have 22 pairs of autosomes (44 autosomes) in each cell together with two sex chromosomes (X and Y in the male and XX in the female). "

Anemia
Anemia is a condition in which a deficiency in the size or number of erythrocytes (red blood cells) or the amount of hemoglobin they contain limits the exchange of oxygen and carbon dioxide between the blood and the tissue cells. Most anemias are caused by a lack of nutrients required for normal erythrocyte synthesis, principally iron, vitamin B-12, and folic acid. Others result from a variety of conditions, such as hemorrhage, genetic abnormalities, chronic disease states or drug toxicity.



SIMILAR TERMS
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Aase-Smith syndrome I
A syndrome of congenital malformations (birth defects) characterized by hydrocephalus, cleft palate, and severe arthrogryposis (joint contractures). Other anomalies may include deformed ears, ptosis (drooping) of the eyelids, inability to open the mouth fully, heart defects, and clubfoot. The fingers are thin with absent knuckles, reduced creases over the joints and inability to make a full fist. The syndrome is inherited as an autosomal dominant trait, transmitted from generation to generation, affecting both males and females. It is named for the American dysmorphologists (birth-defect experts) Jon Aase and David W. Smith.



PREVIOUS AND NEXT TERMS
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AAA
Abdominal aortic aneurysm.

AAAS
Spoken of as the "triple-AS", the American Association for the Advancement of Science is an organization concerned not only with the biomedical sciences but with all of the sciences. The AAAS publishes the weekly journal "Science", one of the great scientific periodicals. "Science" carries a remarkable range of new scientific information including, for example, findings from the Apollo mission to Mars as well as reports from the project to map the human genome.

AAD
American Association of Dermatology, one of many important professional societies in the health arena. The AMA (the American Medical Association) is a better known example in the US. Only a small selection of the many health-related organizations is given as a sampler in this DICTIONARY.

Aase-Smith syndrome I
A syndrome of congenital malformations (birth defects) characterized by hydrocephalus, cleft palate, and severe arthrogryposis (joint contractures). Other anomalies may include deformed ears, ptosis (drooping) of the eyelids, inability to open the mouth fully, heart defects, and clubfoot. The fingers are thin with absent knuckles, reduced creases over the joints and inability to make a full fist. The syndrome is inherited as an autosomal dominant trait, transmitted from generation to generation, affecting both males and females. It is named for the American dysmorphologists (birth-defect experts) Jon Aase and David W. Smith.

Aase-Smith syndrome II

Ab ovo
Latin expression for "from the beginning." Ab ovo literally means "from the egg."

Ab
Prefix meaning "from, away from, off" as in abduction (movement of a limb away from the midline of the body), ablate (carry or cut away), abnormal (away from normal), absorb (to suck away). Ab in Latin means "from."

Abate
To lessen or decrease. After a boil is lanced, the pus can drain and the pain and tenderness abate. From the French abbatre, to beat down.

Abatement
A diminution, decrease or easing. In medicine there may be abatement of pain or any other symptom or sign. In the environment there may abatement in the degree of pollution. See also Abate.

ABCD rating
A staging system for prostate cancer. See the Jewett staging system.

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