Dysplasia, cleidocranial

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Dysplasia, cleidocranial

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.

RELATED TERMS
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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.

Development
The process of growth and differentiation.

Cranial
The anatomical term for towards the head; also the general term for of the head. i.e. the lungs are cranial to the pelvis. See Caudal/Inferior/Superior

Skull
The bony framework of the head.

Bridge
Stationary dental prosthesis (appliance) fixed to teeth adjacent to a space; replaces one or more missing teeth, cemented or bonded to supporting teeth or implants adjacent to the space.

Eruption
Process of teeth protruding through the gums

Abnormal
Not normal. Deviating from the usual structure, position, condition, or behavior. In referring to a growth, abnormal may mean that it is cancerous or premalignant (likely to become cancer).

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, 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.

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.

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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
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.

Dysplasia, cleidocranial

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.

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.

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This dictionary contains 25007 terms.

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