Dysplasia, arteriohepatic

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Dysplasia, arteriohepatic

Dysplasia, arteriohepatic

Also known as Alagille syndrome, this ia a genetic disorder characterized by jaundice in the newborn period, liver disease with cholestasis, peripheral pulmonic stenosis and unusual face. Children with Alagille syndrome usually present with jaundice (yellowing of the skin and whites of the eyes) in the newborn period. Cholestasis (stagnant flow of bile from the liver) then develops with puritis (itching), stools without the usual yellowing brown color, and enlargement of the liver and spleen. Peripheral pulmonic stenosis is a form of congenital heart disease (CHD). Other types of CHD also occur. The face has deep-set eyes, broad forehead, long nose with flat tip, prominence of the chin, and low-set or malformed ears. The outlook depends upon the degree of severity of the CHD and the liver disease (it can cause liver failure). The condition is an autosomal dominant trait meaning that the gene for it is on a non-sex chromosome (an autosome) and a single edition of the Alagille gene is sufficient to produce the disease. The gene has been discovered on chromosome 20 in band 20p12.

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.

Genetic
Hereditary. Having to do with the genes.

Jaundice
A condition in which the skin and the whites of the eyes become yellow, urine darkens, and the color of stool becomes lighter than normal. Jaundice occurs when the liver is not working properly or when a bile duct is blocked.

Liver
The largest organ in the body. The liver carries out many important functions, such as making bile, changing food into energy, and cleaning alcohol and poisons from the blood.

Disease
Illness or sickness often characterized by typical patient problems (symptoms) and physical findings (signs). Disruption sequence: The events that occur when a fetus that is developing normally is subjected to a destructive agent such as the rubella (German measles) virus.

Cholestasis
Blocked bile ducts often caused by gallstones.

Peripheral
At or near the surface of the body. Located away from the center structure.

Stenosis
The narrowing or constriction of a blood vessel or valve in the heart.

Skin
Skin is an organ of the integumentary system; which is composed of a layer of tissues that protect underlying muscles and organs. Skin is used for insulation, vitamin D production, sensation, and excretion (through sweat).

Bile
Fluid made by the liver and stored in the gallbladder. Bile helps break down fats and gets rid of wastes in the body.

Spleen
The organ that cleans blood and makes white blood cells.

Congenital
Present at birth.

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

Chin
Medically, the mentum. The lower portion of the face below the lower lip including the prominence of the lower jaw and the line of fusion of the two separate halves of the jawbone (mandible). This line of fusion (called the symphysis menti) encloses a triangular area at tip of the chin (termed the mental protuberance). On each side, below the second premolar tooth, is the mental foramen, an opening for the passage of blood vessels and a nerve that supply the chin.

Condition
The term "condition" has a number of biomedical meanings including the following: 1.An unhealthy state, such as in "this is a progressive condition." 2.A state of fitness, such as "getting into condition." 3.Something that is essential to the occurrence of something else; essentially a "precondition." 4.As a verb: to cause a change in something so that a response that was previously associated with a certain stimulus becomes associated with another stimulus; to condition a person, as in behavioral conditioning.

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).

Gene
1. A unit of DNA that carries information for the biosynthesis of a specific product in the cell. 2. Ultimate unit by which inheritable characteristics are transmitted to succeeding generations in all living organisms. Genes are contained by, and arranged along the length of, the chromosome. The gene is composed of deoxyribonucleic acid (DNA). Each chromosome of each species has a definite number and arrangement of genes, which govern both the structure and metabolic functions of the cells and thus of the entire organism.

Chromosome
A structural unit within a eukaryotic nucleus that carries genes. A chromosome consists of a long, continuous strand of DNA and associated proteins.

SIMILAR TERMS
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Dyspareunia
A condition or syndrome of difficult or painful coitus, of variable etiology, in men and women [from Greek, dyspareunos, badly mated]. The term is used chiefly in reference to women, but applies equally well to men. the experience of pain, especially in the sex organs or within the pelvis, during sexual intercourse. It may also include coital migraine headache. It may occur in either sex, but traditionally has been named dyspareunia in women and coital pain in men. Dyspareunia may be a manifestation of hypophilia.

Dyspepsia
Indigestion.

Dyspeptic
Pertaining to dyspepsia, a term that is probably more often encountered today in advertising than in medicine. "Dyspepsia" refers to nondescript, nonspecific upper abdominal symptoms which may include discomfort, bloating, a feeling of unusual fullness with very little intake of food (early satiety) or following meals (postprandial fullness), nausea, loss of appetite, heartburn, regurgitation of food or acid, and belching.

Dysphagia
Problems in swallowing food or liquid, usually caused by blockage or injury to the esophagus.

Dysphagia, dysphagy
Difficulty in swallowing.

Dysphasia
A cognitive disorder marked by an impaired ability to comprehend or express language in its written or spoken form. This condition is caused by diseases which affect the language areas of the dominant hemisphere. Clinical features are used to classify the various subtypes of this condition. General categories include receptive, expressive, and mixed forms of aphasia.

Dysphonia
Altered voice production.

Dysphoria
Dysphoria is the lack of ability to feel enjoyment at any activity, an emotional state characterized by malaise, anxiety, depression or unease. The opposite of dysphoria would be euphoria.

Dysphoric mania
The concurrent presence of symptoms of depression and mania together. Also called Mixed bipolar state.

Dysphoric mood
An unpleasant mood, such as sadness, anxiety, or irritability.

Dysplasia
An abnormality of growth.

Dysplasia, cleidocranial
A genetic (inherited) disorder of bone development characterized by: Absent or incompletely formed collar bones (the "cleido-" part refers to the clavicles, the collar bones) The child with this disorder can bring its shoulders together or nearly so; and Typical cranial and facial abnormalities with square skull, late closure of the sutures of the skull, late closure of the fontanels (the soft spots), low nasal bridge, delayed eruption of the teeth, abnormal permanent teeth, etc.

Dysplasia, congenital hip
The abnormal formation of the hip joint in which the ball at the top of the thighbone (the femoral head) is not stable within the socket (the acetabulum). The ligaments of the hip joint may also be loose and stretched.

Dysplasia, thanatophoric
A form of short-limbed (micromelic) dwarfism that usually causes death within the first few hours after birth. Thanatophoric dysplasia is due to a lethal mutation (change) in the same gene that produces achondroplasia, a familiar and far more common form of short-limbed dwarfism that is compatible with life.

Dysplastic nevi
Atypical moles whose appearance is different from that of a common ordinary mole. Dysplastic nevi tend to be larger than ordinary moles, have more irregular borders, are often mixed in color and present in large numbers. A dysplastic nevus can give rise to malignant melanoma.

Dysplastic nevus
An atypical mole whose appearance is different from that of a common ordinary mole. Dysplastic nevi tend to be larger than ordinary moles, have more irregular borders, are often mixed in color and present in large numbers. A dysplastic nevus can give rise to malignant melanoma.

Dyspnea
Shortness of breath.

Dyspnoea
Difficult or labored breathing; shortness of breath. Dyspnoea is a sign of serious disease of the airway, lungs, or heart. The onset of dyspnoea should not be ignored but is reason to seek medical attention.

Dyspraxia
Impaired or painful function of any organ of the body.

Dyspraxia of speech
A developmental disability characterized by difficulty in muscle control, specifically of the muscles involved in producing speech. It is caused by a neurological difference that has not yet been pinpointed. Treatment is via intensive speech therapy concentrating on oral-motor skills.

Dyspraxia, developmental
A pattern of delayed, uneven, or aberrant development of physical abilities during childhood development. The physical abilities affected may be gross or fine motor skills. Developmental dyspraxia may be seen alone or in combination with other developmental problems, particularly apraxia or dyspraxia of speech. Treatment is via early intervention, using physical therapy to improve gross motor skills and occupational therapy to assist in fine motor development and sensory integration.

PREVIOUS AND NEXT TERMS
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Dysmorphophobia
Excessive dislike of a part of ones body.

Dysmotility syndrome
A vague, descriptive term used to describe diseases of the muscles of the gastrointestinal tract (esophagus, stomach, small and large intestines) in which the muscles do not work normally (hence the term dysmotility). Other terms that are sometimes used for dysmotility problems are gastroparesis when the stomach is involved, and chronic intestinal pseudo-obstruction when the intestines and stomach are involved.

Dysostosis, cleidocranial
A genetic (inherited) disorder of bone development characterized by: Absent or incompletely formed collar bones (the "cleido-" part refers to the clavicles, the collar bones) The child with this disorder can bring its shoulders together or nearly so; and Typical cranial and facial abnormalities with square skull, late closure of the sutures of the skull, late closure of the fontanels (the soft spots), low nasal bridge, delayed eruption of the teeth, abnormal permanent teeth, etc.

Dyspeptic
Pertaining to dyspepsia, a term that is probably more often encountered today in advertising than in medicine. "Dyspepsia" refers to nondescript, nonspecific upper abdominal symptoms which may include discomfort, bloating, a feeling of unusual fullness with very little intake of food (early satiety) or following meals (postprandial fullness), nausea, loss of appetite, heartburn, regurgitation of food or acid, and belching.

Dysphoric mania
The concurrent presence of symptoms of depression and mania together. Also called Mixed bipolar state.

Dysplasia, arteriohepatic

Dysplasia, cleidocranial
A genetic (inherited) disorder of bone development characterized by: Absent or incompletely formed collar bones (the "cleido-" part refers to the clavicles, the collar bones) The child with this disorder can bring its shoulders together or nearly so; and Typical cranial and facial abnormalities with square skull, late closure of the sutures of the skull, late closure of the fontanels (the soft spots), low nasal bridge, delayed eruption of the teeth, abnormal permanent teeth, etc.

Dysplasia, congenital hip
The abnormal formation of the hip joint in which the ball at the top of the thighbone (the femoral head) is not stable within the socket (the acetabulum). The ligaments of the hip joint may also be loose and stretched.

Dysplasia, thanatophoric
A form of short-limbed (micromelic) dwarfism that usually causes death within the first few hours after birth. Thanatophoric dysplasia is due to a lethal mutation (change) in the same gene that produces achondroplasia, a familiar and far more common form of short-limbed dwarfism that is compatible with life.

Dysplastic nevi
Atypical moles whose appearance is different from that of a common ordinary mole. Dysplastic nevi tend to be larger than ordinary moles, have more irregular borders, are often mixed in color and present in large numbers. A dysplastic nevus can give rise to malignant melanoma.

Dysplastic nevus
An atypical mole whose appearance is different from that of a common ordinary mole. Dysplastic nevi tend to be larger than ordinary moles, have more irregular borders, are often mixed in color and present in large numbers. A dysplastic nevus can give rise to malignant melanoma.

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