Aase-Smith syndrome I
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  Aase-Smith syndrome I



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.

RELATED TERMS
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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.

Congenital
Present at birth.

Hydrocephalus
A relatively rare condition caused by swelling of the fluid-filled cavities in the brain (called ventricles), hydrocephalus or "water on the brain" is sometimes the first sign of spina bifida or can be caused by a tumor or surgery to close an open spinal column.

Palate
Hard and soft tissue forming the roof of the mouth.

Arthrogryposis
Joint contractures that develop before birth (prenatally) and are evident at birth (congenitally). A newborn with arthrogryposis lacks the normal range of motion in one or more joints.

Anomalies
Birth defects; abnormalities.

Ptosis
A drooping of the upper eyelid. In children it is usually a congenital problem. It rarely causes amblyopia. Most children simply hold their heads back if the droop is severe. Surgery, the only treatment, is usually suggested prior to starting school when the appearance is cosmetically unacceptable.

Heart
The hollow, muscular organ responsible for pumping blood through the circulatory system.

Clubfoot
A congenital deformed or distorted foot. May respond to exercises and/or surgery.

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). "

Dominant
A genetic trait is considered dominant if it is expressed in a person who has only one copy of that gene. (In genetic terms, a dominant trait is one that is phenotypically expressed in heterozygotes). A dominant trait is opposed to a recessive trait which is expressed only when two copies of the gene are present. (In genetic terms, a recessive trait is one that is phenotypically expressed only in homozygotes).

Females
Human adult females as cultural, psychological, sociological, political, and economic entities.



SIMILAR TERMS
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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.



PREVIOUS AND NEXT TERMS
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A1C
A test that measures how much glucose has been sticking during the past 34 months to hemoglobin, the substance in the red blood cells that carries oxygen to the cells of the body. The A1C test is important in diabetes as a long-term measure of control over blood glucose. Even outside of diabetes, an elevated A1C level may be a cardiovascular risk factor.

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

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.

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.

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