Deforming Chondrodysplasia, Hereditary
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  Deforming Chondrodysplasia, Hereditary



Deforming Chondrodysplasia, Hereditary

   Hereditary disorder transmitted by an autosomal dominant gene and characterized by multiple exostoses (multiple osteochondromas) near the ends of long bones. The genetic abnormality results in a defect in the osteoclastic activity at the metaphyseal ends of the bone during the remodeling process in childhood or early adolescence. The metaphyses develop benign, bony outgrowths often capped by cartilage. A small number undergo neoplastic transformation.

RELATED TERMS
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Hereditary
Transmitted from parent to offspring; derived from ancestry.

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.

Exostoses
Benign hypertrophy that projects outward from the surface of bone, often containing a cartilaginous component.

Genetic
Hereditary. Having to do with the genes.

Bone
Bone refers either to a hardened connective tissue or to one of the individual structures, or organs, into which it is formed, found in many animals. Bones support body structures, protect internal organs, and (in conjunction with muscles) facilitate movement; are also involved with cell formation, calcium metabolism, and mineral storage. The bones of an animal are, collectively, known as the skeleton.

Childhood
1. The time for a boy or girl from birth until he or she is an adult. 2. The more circumscribed period of time from infancy to the onset of puberty.

Benign
Non-malignant; not life-threatening.

Cartilage
A firm, flexible connective tissue. In vertebrates, the cartilage forms the skeleton in the early stages of development, after which it is largely replaced by bone. Some cartilage remains at the joints to give flexibility and support.

Transformation
A genetic process resulting in a heritable alteration of the properties of a cell. In the case of cultured cells, transformation often refers to the acquisition of new properties, such as unlimited culture lifespan.



SIMILAR TERMS
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Defoaming Agents
Agents used to prevent the formation of foam or to treat flatulence or bloat.

Deforestation
The protection, preservation, restoration, and rational use of all resources in the total environment.

Deformability, Erythrocyte
Ability of erythrocytes to change shape as they pass through narrow spaces, such as the microvasculature.

Deformation
A change from the normal size or shape of an anatomic structure due to mechanical forces that distort an otherwise normal structure. Deformations occur most often late in pregnancy or during delivery. A twin pregnancy can cause deformations due to crowding of the twins late in pregnancy. A well-known example of a deformation is molding of the head of a baby born by vaginal delivery. There are usually no significant lasting effects of a deformation. The effects are typically temporary.

Deformed Pupil
Conditions which affect the structure or function of the pupil of the eye, including disorders of innervation to the pupillary constrictor or dilator muscles, and disorders of pupillary reflexes.

Deformed Pupils
Conditions which affect the structure or function of the pupil of the eye, including disorders of innervation to the pupillary constrictor or dilator muscles, and disorders of pupillary reflexes.

Deforming Chondrodysplasias, Hereditary
Hereditary disorder transmitted by an autosomal dominant gene and characterized by multiple exostoses (multiple osteochondromas) near the ends of long bones. The genetic abnormality results in a defect in the osteoclastic activity at the metaphyseal ends of the bone during the remodeling process in childhood or early adolescence. The metaphyses develop benign, bony outgrowths often capped by cartilage. A small number undergo neoplastic transformation.

Deformities
Congenital malformations of organs or parts.

Deformities, Acquired Ear
Distortion or disfigurement of the ear caused by disease or injury after birth.

Deformities, Acquired Foot
Distortion or disfigurement of the foot, or a part of the foot, acquired through disease or injury after birth.

Deformities, Acquired Hand
Deformities of the hand, or a part of the hand, acquired after birth as the result of injury or disease.

Deformities, Acquired Joint
Deformities acquired after birth as the result of injury or disease. The joint deformity is often associated with rheumatoid arthritis and leprosy.

Deformities, Acquired Nose
Deformities of the nose acquired after birth from injury or disease.

Deformities, Cavus
Alterations or deviations from normal shape or size which result in a disfigurement of the foot.

Deformities, Congenital Foot
Alterations or deviations from normal shape or size which result in a disfigurement of the foot occurring at or before birth.

Deformities, Congenital Hand
Alterations or deviations from normal shape or size which result in a disfigurement of the hand occurring at or before birth.

Deformities, Congenital Limb
Congenital structural deformities of the upper and lower extremities collectively or unspecified.

Deformities, Equinus
Plantar declination of the foot.

Deformities, Foot
Alterations or deviations from normal shape or size which result in a disfigurement of the foot.

Deformities, Hand
Alterations or deviations from normal shape or size which result in a disfigurement of the hand.

Deformities, Metatarsal
Alterations or deviations from normal shape or size which result in a disfigurement of the foot.

Deformity
Congenital malformations of organs or parts.

Deformity, Acquired Ear
Distortion or disfigurement of the ear caused by disease or injury after birth.

Deformity, Acquired Foot
Distortion or disfigurement of the foot, or a part of the foot, acquired through disease or injury after birth.

Deformity, Acquired Hand
Deformities of the hand, or a part of the hand, acquired after birth as the result of injury or disease.

Deformity, Acquired Joint
Deformities acquired after birth as the result of injury or disease. The joint deformity is often associated with rheumatoid arthritis and leprosy.

Deformity, Acquired Nose
Deformities of the nose acquired after birth from injury or disease.

Deformity, Arnold-Chiari
A group of congenital malformations involving the brainstem, cerebellum, upper spinal cord, and surrounding bony structures. Type II is the most common, and features compression of the medulla and cerebellar tonsils into the upper cervical spinal canal and an associated MENINGOMYELOCELE. Type I features similar, but less severe malformations and is without an associated meningomyelocele. Type III has the features of type II with an additional herniation of the entire cerebellum through the bony defect involving the foramen magnum, forming an ENCEPHALOCELE. Type IV is a form a cerebellar hypoplasia. Clinical manifestations of types I-III include TORTICOLLIS; opisthotonus; HEADACHE; VERTIGO; VOCAL CORD PARALYSIS; APNEA; NYSTAGMUS; swallowing difficulties; and ATAXIA. (From Menkes, Textbook of Child Neurology, 5th ed, p261; Davis, Textbook of Neuropathology, 2nd ed, pp236-46)

Deformity, cauliflower-ear
Destruction of the underlying cartilage framework of the outer ear (pinnae), usually caused by either infection or trauma, resulting in a thickening of the ear. Classically, blood collects (hematoma) between the ear cartilage and the skin. There is a marked thickening of the entire ear which may be so extensive that the shape of the ear becomes unrecognizable. The ear is said to look like a piece of cauliflower. It is typically seen in wrestlers and boxers who have had repeated trauma to the ear.

Deformity, Cavus
Alterations or deviations from normal shape or size which result in a disfigurement of the foot.

Deformity, Congenital Foot
Alterations or deviations from normal shape or size which result in a disfigurement of the foot occurring at or before birth.

Deformity, Congenital Hand
Alterations or deviations from normal shape or size which result in a disfigurement of the hand occurring at or before birth.

Deformity, Congenital Limb
Congenital structural deformities of the upper and lower extremities collectively or unspecified.

Deformity, Equinus
Plantar declination of the foot.

Deformity, Foot
Alterations or deviations from normal shape or size which result in a disfigurement of the foot.

Deformity, Hand
Alterations or deviations from normal shape or size which result in a disfigurement of the hand.

Deformity, Metatarsal
Alterations or deviations from normal shape or size which result in a disfigurement of the foot.



PREVIOUS AND NEXT TERMS
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Deficiency, Yang
In the yin-yang system of philosophy and medicine, a lack of vital energy (called yangxu in Chinese). It manifests itself in various systemic and organic diseases. (The Pinyin Chinese-English Dictionary, 1979)

Deficiency, Vitamin K
A nutritional condition produced by a deficiency of VITAMIN K in the diet, characterized by an increased tendency to hemorrhage (HEMORRHAGIC DISORDERS). Such bleeding episodes may be particularly severe in newborn infants. (From Cecil Textbook of Medicine, 19th ed, p1182)

Deformities
Congenital malformations of organs or parts.

Deforming Chondrodysplasias, Hereditary
Hereditary disorder transmitted by an autosomal dominant gene and characterized by multiple exostoses (multiple osteochondromas) near the ends of long bones. The genetic abnormality results in a defect in the osteoclastic activity at the metaphyseal ends of the bone during the remodeling process in childhood or early adolescence. The metaphyses develop benign, bony outgrowths often capped by cartilage. A small number undergo neoplastic transformation.

Deformed Pupils
Conditions which affect the structure or function of the pupil of the eye, including disorders of innervation to the pupillary constrictor or dilator muscles, and disorders of pupillary reflexes.

Deforming Chondrodysplasia, Hereditary

Deformed Pupil
Conditions which affect the structure or function of the pupil of the eye, including disorders of innervation to the pupillary constrictor or dilator muscles, and disorders of pupillary reflexes.

Deformability, Erythrocyte
Ability of erythrocytes to change shape as they pass through narrow spaces, such as the microvasculature.

Deforestation
The protection, preservation, restoration, and rational use of all resources in the total environment.

Defoaming Agents
Agents used to prevent the formation of foam or to treat flatulence or bloat.

Deficits, Neurologic
Clinical signs and symptoms caused by nervous system injury or dysfunction.

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