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Medical Dictionary


dysentery (dis-en-tar-e)
A disease marked by frequent watery stools, often with blood and mucus, and characterized clinically by pain, tenesmus, fever, and dehydration. [G. dysenteria, fr. dys-, bad, + entera, bowels] amebic d. diarrhea resulting from ulcerative inflammation of the colon, caused chiefly by infection with Entamoeba histolytica; may be mild or severe and also may be associated with amebic infection of other organs. bacillary d. infection with Shigella dysenteriae, S. flexneri, or other organisms. balantidial d. a type of colitis resembling in many respects amebic d.; caused by the parasitic ciliate, Balantidium coli. bilharzial d. d. due to infection with Schistosoma mansoni, S. haematobium, or S. japonicum. fulminating d. SYN: malignant d.. helminthic d. d. caused by infection with parasitic worms. malignant d. d. in which the symptoms are intensely acute, leading to prostration, collapse, and often death. SYN: fulminating d.. viral d. profuse watery diarrhea thought to be caused by infection with a virus.

dyserethism (dis-er′e-thizm)
A condition of slow response to stimuli. [dys- + G. erethismos, irritation]

dysergia (dis-er′je-a)
Lack of harmonious action between the muscles concerned in executing any definite voluntary movement. [dys- + G. ergon, work]

dysesthesia (dis-es-the′ze-a)
1. Impairment of sensation short of anesthesia. 2. A condition in which a disagreeable sensation is produced by ordinary stimuli; caused by lesions of the sensory pathways, peripheral or central. 3. Abnormal sensations experienced in the absence of stimulation. [G. dysaisthesia, fr. dys-, hard, difficult, + aisthesis, sensation]

dysfibrinogenemia (dis′fi-brin′o-je-ne′me-a) [MIM*134820]
An autosomal dominant disorder of qualitatively abnormal fibrinogens of various types; each type is named for the city in which the abnormal fibrinogen was discovered. Examples include: 1) Amsterdam, Bethesda II, Cleveland, Los Angeles, Saint Louis, Zurich I and II: major defect, aggregation of fibrin monomers; thrombin time prolonged; inhibitory effect on normal clotting; asymptomatic; 2) Bethesda I and Detroit: major defect, fibrinopeptide release; thrombin time prolonged; inhibitory effect on normal clotting; abnormal bleeding; 3) Baltimore: major defect, fibrinopeptide release; thrombin time prolonged; no inhibitory effect on normal clotting; bleeding and thrombosis; 4) Leuven: major defect, questionable aggregation of fibrin monomers; thrombin time prolonged; slight inhibitory effect on normal clotting; abnormal bleeding; 5) Metz: major defect unreported; thrombin time infinite; effect on normal clotting unreported; abnormal bleeding; 6) Nancy: major defect, aggregation of fibrin monomers; thrombin time prolonged; slight inhibitory effect on normal clotting; asymptomatic; 7) Oklahoma: major defect unreported; thrombin time normal; no effect on normal clotting; abnormal bleeding; 8) Oslo: major defect unreported; thrombin time shortened; effect on normal clotting unreported; abnormal thrombosis; 9) Parma: major defect unreported; thrombin time infinite; no inhibitory effect on normal clotting; abnormal bleeding; 10) Paris I: major defect unreported; thrombin time infinite; inhibitory effect on normal clotting; asymptomatic; 11) Paris II: major defect unreported; thrombin time prolonged; inhibitory effect on normal clotting; asymptomatic; 12) Troyes: major defect unreported; thrombin time prolonged; effect on normal clotting unreported; asymptomatic; 13) Vancouver: major defect unreported; thrombin time prolonged; no effect on normal clotting; abnormal bleeding; 14) Wiesbaden: major defect, aggregation of fibrin monomers; thrombin time prolonged; inhibitory effect on normal clotting; bleeding and thrombosis.

dysfunction (dis-funk′shun)
Abnormal or difficult function. constitutional hepatic d. SYN: familial nonhemolytic jaundice. dental d. abnormal functioning of dental structures. minimal brain d. attention deficit disorder. papillary muscle d. impaired function of a papillary muscle, usually due to ischemia or infarction, with resulting incompetence of the mitral (rarely tricuspid) valve. SYN: papillary muscle syndrome. phagocyte d. (fa′go-sit) disorder of phagocytic function. placental d. SYN: dysmature (3) . psychosexual d., sexual d. a disturbance of sexual functioning, e.g., impotence, premature ejaculation, anorgasmia, presumed to be of psychological rather than physical etiology. sphincter of Oddi d. structural or functional abnormality of the sphincter of Oddi that interferes with bile or pancreatic duct drainage. SYN: biliary dyskinesia. temporomandibular joint d. (TMD, TMJ) chronic or impaired function of the temporomandibular articulation. See temporomandibular arthrosis, myofascial pain-d. syndrome.

dysgammaglobulinemia (dis-gam′a-glob′u-li-ne′me-a)
An immunoglobulin abnormality, a disturbance of the percentage distribution of γ-globulins or selective deficiency of one or more immunoglobulins.

dysgenesis (dis-jen′e-sis)
Defective development. [dys- + G. genesis, generation] cortical d. SYN: cortical dysplasia. gonadal d. defective gonadal development, varying types and degrees of which have been identified, including gonadal aplasia or agenesis, rudimentary gonads, congenitally defective gonads, and true hermaphroditism; the character of the external genitalia, genital ducts, and secondary sexual development are only sometimes uniquely related to a given type of gonadal d. XO gonadal d. consists of monosomy X with a gonadal streak rather than a true ovary, notably seen in Turner syndrome; XX gonadal d. is an autosomal recessive disorder with a female karyotype, streaked gonads, and primary amenorrhea, but with no body features of Turner syndrome; XY gonadal d. is an X-linked disorder associated with a male karyotype and a female habitus, streaked gonads, and absence of secondary sexual characteristics. iridocorneal mesenchymal d. d. of cornea and iris, producing pupillary anomalies, posterior embryotoxon, and secondary glaucoma, resulting in part from anomalous development of the ocular mesenchyme. seminiferous tubule d. rarely used term for a disorder in which the seminiferous tubules exhibit an abnormal cytoarchitecture and extensive hyalinization; the testes are small, and few spermatozoa are formed; the body habitus may be eunuchoid, and gynecomastia may be present; urinary gonadotropin output is usually high, and the incidence of mental deficiency and illness increased; sex chromatin may be male or female, and androgen secretion ranges from subnormal to normal. It is a constant feature of (and the term may be used synonymously with) Klinefelter syndrome. SYN: germinal aplasia. testicular d. [MIM*305700] a congenital derangement of seminiferous tubular structure and function, resulting in male infertility; the defect in spermatogenesis may be incomplete, as in maturational arrest or premature sloughing, or spermatogenesis may be completely absent, as in the Sertoli-cell-only syndrome.

dysgenic (dis-jen′ik)
Applying to factors that have a detrimental effect upon hereditary qualities, physical or mental.

dysgerminoma (dis-jer-mi-no′ma)
A malignant neoplasm of the ovary (counterpart of seminoma of the testis), composed of undifferentiated gonadal germinal cells and occurring more frequently in patients less than 20 years of age. The neoplasms are gray-yellow and firm, contain foci of necrosis and hemorrhage, and tend to be encapsulated; characteristically, they spread by way of lymphatic vessels, but widespread metastases also occur. SYN: disgerminoma. [dys- + L. germen, a bud or sprout, + G. -oma, tumor]

dysgeusia (dis-goo′se-a)
Distortion or perversion in the perception of a tastant. An unpleasant perception may occur when a normally pleasant taste is present, or the perception may occur when no tastant is present (gustatory hallucination). SYN: parageusia. [dys- + G. geusis, taste]

dysgnathia (dis-nath′e-a)
Any abnormality that extends beyond the teeth and includes the maxilla or mandible, or both. [dys- + G. gnathos, jaw]

dysgnathic (dis-nath′ik)
Pertaining to or characterized by abnormality of the maxilla and mandible.

dysgnosia (dis-no′se-a)
Any cognitive disorder, i.e., any mental illness. [G. d., difficulty of knowing]

dysgonic (dis-gon′ik)
A term used to indicate that the growth of a bacterial culture is slow and relatively poor; used especially in reference to the growth of cultures of the bovine tubercle bacillus (Mycobacterium bovis) SEE ALSO: eugonic. [dys- + G. gonikos, relating to the seed or offspring]

dysgraphia (dis-graf′e-a)
1. Difficulty in writing. 2. SYN: writer's cramp. [dys- + G. graphe, writing]

dyshematopoiesis (dis-he′ma-to-poy-e′sis)
Defective formation of the blood. SYN: dyshemopoiesis. [dys- + G. haima (haimat-), blood, + poiesis, making]

dyshematopoietic (dis-he′ma-to-poy-et′ik)
Pertaining to or characterized by dyshematopoiesis. SYN: dyshemopoietic.

dyshemopoiesis (dis-he′mo-poy-e′sis)
SYN: dyshematopoiesis.

dyshemopoietic (dis-he′mo-poy-et′ik)
SYN: dyshematopoietic.

dyshidria (dis-hid′re-a)
SYN: dyshidrosis.

dyshidrosis (dis-i-dro′sis)
A vesicular or vesicopustular eruption of multiple causes that occurs primarily on the volar surfaces of the hands and feet; the lesions spread peripherally but have a tendency to central clearing. SYN: cheiropompholyx, chiropompholyx, dyshidria, dyshidrotic eczema, pompholyx. [dys- + G. hidros, sweat]

A separation of parts or structures normally joined; cleavage. Le Fort III craniofacial d. SYN: craniofacial d. fracture.

dyskaryosis (dis-kar-e-o′sis)
Abnormal maturation seen in exfoliated cells that have normal cytoplasm but hyperchromatic nuclei, or irregular chromatin distribution; may be followed by the development of a malignant neoplasm. [dys- + G. karyon, nucleus, + -osis, condition]

dyskaryotic (dis-kar-e-ot′ik)
Pertaining to or characterized by dyskaryosis.

dyskeratoma (dis-ker-a-to′ma)
A skin tumor exhibiting dyskeratosis. [dys- + G. keras, horn, + -oma, tumor] warty d. a benign solitary tumor of the skin, usually of the scalp, face, or neck, with a central keratotic plug; it appears to arise from a hair follicle, and microscopically resembles a lesion of keratosis follicularis but is larger, with more extensive epithelial downgrowth. SYN: isolated dyskeratosis follicularis.

dyskeratosis (dis′ker-a-to′sis)
1. Premature keratinization in individual epithelial cells that have not reached the keratinizing surface layer; dyskeratotic cells generally become rounded and they may break away from adjacent cells and fall off. 2. Epidermalization of the conjunctival and corneal epithelium. 3. A disorder of keratinization. [dys- + G. keras, horn, + -osis, condition] benign d. d. that may occur in congenital and bullous diseases of the skin. d. congenita [MIM*305000] nail dystrophy, oral leukoplakia, and reticular pigmentation of the skin, testicular atrophy with anemia progressing most commonly to pancytopenia; X-linked recessive inheritance, caused by mutation in the DKC1 gene encoding dyskenin on Xq. intraepithelial d. [MIM*127600] an autosomal dominant condition consisting of white spongy lesions of the buccal mucosa, floor of the mouth, ventral lateral tongue, gingiva and palate. Transient gelatinous plaques form over the cornea, which may produce temporary blindness; isolated d. follicularis SYN: warty dyskeratoma.

dyskeratotic (dis′ker-a-tot′ik)
Relating to or characterized by dyskeratosis.

dyskinesia (dis-ki-ne′ze-a) [MIM*242650]
Difficulty in performing voluntary movements. Term usually used in relation to various extrapyramidal disorders. SYN: dyscinesia. [dys- + G. kinesis, movement] biliary d. SYN: sphincter of Oddi dysfunction. extrapyramidal dyskinesias abnormal involuntary movements attributed to pathologic states of one or more parts of the striate body and characterized by insuppressible, stereotyped, automatic movements that cease only during sleep; e.g., Parkinson disease; chorea; athetosis; hemiballism. lingual-facial-buccal d. SYN: tardive d.. tardive d. involuntary movements of the facial muscles and tongue, often persistent, that develop as a late complication of some neuroleptic therapy, more likely with typical antipsychotics. SYN: lingual-facial-buccal d.. tracheobronchial d. degeneration of elastic and connective tissue of bronchi and trachea.

SYN: dyskinesia. ciliary d. 1. absent or impaired motion of the cilia, occurring as a primary or secondary disorder; SEE ALSO: Kartagener syndrome. 2. associated with recurrent infections in the respiratory tract.

dyskinetic (dis-ki-net′ik)
Denoting or characteristic of dyskinesia.

dyslexia (dis-lek′se-a)
Impaired reading ability with a competence level below that expected on the basis of the individual's level of intelligence, and in the presence of normal vision and letter recognition and normal recognition of the meaning of pictures and objects. SYN: incomplete alexia. [dys- + G. lexis, word, phrase]

dyslexic (dis-lek′sik)
Relating to, or characterized by, dyslexia.

dyslogia (dis-lo′je-a)
Impairment of speech and reasoning as the result of a mental disorder. [dys- + G. logos, speaking, reason]

dysmasesis (dis-ma-se′sis)
Difficulty in mastication. [dys- + G. masesis, chewing]

dysmature (dis′ma-tur)
1. Denoting faulty development or ripening; often connoting structural and/or functional abnormalities. 2. In obstetrics, denoting an infant whose birth weight is inappropriately low for its gestational age. 3. Immature development of the placenta so that normal function does not occur. SYN: placental dysfunction.

dysmaturity (dis′ma-choor-i-te)
Syndrome of an infant born with relative absence of subcutaneous fat, wrinkling of the skin, prominent finger and toe nails, and meconium staining of the infant's skin and of the placental membranes; often associated with postmaturity or placental insufficiency.

dysmelia (dis-me′le-a)
Congenital abnormality characterized by missing or foreshortened limbs. See amelia, phocomelia. [dys- + G. melos, limb]

dysmenorrhea (dis-men-or-e′a)
Difficult and painful menstruation. SYN: menorrhalgia. [dys- + G. men, month, + rhoia, a flow] functional d. SYN: primary d.. mechanical d. d. due to obstruction of discharge of menstrual blood, as in cervical stenosis. SYN: obstructive d.. membranous d. d. accompanied by an exfoliation of the menstrual decidua. obstructive d. SYN: mechanical d.. ovarian d. a form of secondary d. due to disease of an ovary. primary d. d. due to a functional disturbance and not due to inflammation, new growths, or anatomic factors. SYN: functional d.. secondary d. d. due to inflammation, infection, tumor, or anatomical factors. spasmodic d. d. accompanied by painful contractions of the uterus. tubal d. a form of secondary d. due to stenosis or other abnormal condition of the fallopian tubes. ureteric d. a form of secondary d. characterized by pain due to spasm of the ureter occurring at the time of the menses. uterine d. a form of secondary d. resulting from disease of the uterus. vaginal d. a form of secondary d. due to obstruction or other abnormal condition in the vagina.

dysmetria (dis-me′tre-a, -met′re-a)
An aspect of ataxia, in which the ability to control the distance, power, and speed of an act is impaired. Usually used to describe abnormalities of movement caused by cerebellar disorders. SEE ALSO: hypermetria, hypometria. [dys- + G. metron, measure] ocular d. abnormality of ocular movements in which the eyes overshoot on attempting to fixate an object.

dysmorphia (dis-mor′fe-a)
SYN: dysmorphism.

dysmorphism (dis-mor′fizm)
Abnormality of shape. SYN: dysmorphia. [G. dysmorphia, badness of form]

dysmorphogenesis (dis′mor-fo-jen′e-sis)
The process of abnormal tissue formation. [dys- + G. morphe, form, + genesis, production]

dysmorphology (dis-mor-fol′o-je)
General term for the study of, or the subject of, abnormal development of tissue form. A branch of clinical genetics. [dys- + G. morphe, form, + logos, study]

dysmorphophobia (dis′mor-fo-fo′be-a)
SYN: body dysmorphic disorder. [dys- + G. morphe, form, + phobos, fear]

dysmyelination (dis-mi-e-li-na′shun)
Improper laying down or breakdown of a myelin sheath of a nerve fiber, caused by abnormal myelin metabolism.

dysmyotonia (dis-mi-o-to′ne-a)
Abnormal muscular tonicity (either hyper- or hypo-). See dystonia. [dys- + G. mys, muscle, + tonos, tension, tone]

dysnystaxis (dis-nis-tak′sis)
A condition of half sleep. SYN: light sleep. [dys- + G. nystaxis, drowsiness]

dysodontiasis (dis′o-don-ti′a-sis)
Difficulty or irregularity in the eruption of the teeth. [dys- + G. odous, tooth, + -iasis, condition]

dysontogenesis (dis′on-to-jen′e-sis)
Defective embryonic development. [dys- + G. on, being, + genesis, origin]

dysontogenetic (dis′on-to-je-net′ik)
Characterized by dysontogenesis.

dysorexia (dis-o-rek′se-a)
Diminished or perverted appetite. [dys- + G. orexis, appetite]

dysosmia (dis-oz′me-a)
Distortion or perversion in the perception of an odorant; an unpleasant perception may occur when a normally pleasant odor is present, or the perception may occur when no odorant is present (olfactory hallucination). SYN: parosmia, parosphresia. [dys- + G. osme, smell]

dysosteogenesis (dis′os-te-o-jen′e-sis)
Defective bone formation. SYN: dysostosis. [dys- + G. osteon, bone, + genesis, production]

dysostosis (dis-os-to′sis)
SYN: dysosteogenesis. [dys- + G. osteon, bone, + -osis, condition] acrofacial d. mandibulofacial d. associated with malformations of the extremities such as defective radius and thumbs, and radioulnar synostosis. SEE ALSO: Treacher Collins syndrome. SYN: acrofacial syndrome. cleidocranial d., clidocranial d. [MIM*119600] a developmental disorder characterized by absence or hypoplasia of clavicles, box-shaped skull with open sutures, frontal bossing, womian bones, ability to oppose shoulders, and missing teeth; autosomal dominant inheritance, caused by mutation in the transcription factor gene (CBFA1) encoding core-binding factor, runt domain, alpha-subunit 1 on 6p. There is an autosomal recessive form [MIM*216330]. SYN: cleidocranial dysplasia, clidocranial dysplasia, craniocleidodysostosis. craniofacial d. [MIM*123500] SYN: Crouzon syndrome. mandibuloacral d. [MIM*248370] an autosomal recessive disorder characterized by hypoplastic mandible, dental crowding, acro-osteolysis, stiff joints, and atrophy of the skin of the hands and feet; clavicles are hypoplastic, cranial sutures are wide, and multiple wormian bones are present. mandibulofacial d. a variable syndrome of malformations primarily of derivatives of the first branchial arch; characterized by palpebral fissures sloping outward and downward with notches or colobomas in the outer third of the lower lids, bony defects or hypoplasia of malar bones and zygoma, hypoplasia of the mandible, macrostomia with high or cleft palate and malposition and malocclusion of teeth, low-set malformed external ears, atypical hair growth, and occasional pits or clefts between mouth and ear. SEE ALSO: Treacher Collins syndrome. SYN: mandibulofacial dysotosis syndrome, mandibulofacial dysplasia. metaphysial d. a rare developmental abnormality of the skeleton in which metaphyses of tubular bones are expanded by deposits of cartilage. d. multiplex specific pattern of radiographic changes observed in many lysosomal storage disorders. orodigitofacial d. SYN: orofaciodigital syndrome. otomandibular d. hypoplasia of the mandible, often with malformation of the temporomandibular joint, associated with malformations of the ear but not eye malformations or malar defects. SYN: otomandibular syndrome. peripheral d. [MIM*170700] d. of the metacarpals and metatarsals, accompanied by variable facial features; possibly autosomal dominant inheritance.

dyspallia (dis-pal′e-a)
Developmental distortion of the brain mantle. [dys- + L. pallium, cloak]

dyspareunia (dis-pa-roo′ne-a)
Occurrence of pain during sexual intercourse. [dys- + G. pareunos, lying beside, fr. para, beside, + eune, a bed]

dyspepsia (dis-pep′se-a)
Impaired gastric function or “upset stomach” due to some disorder of the stomach; characterized by epigastric pain, sometimes burning, nausea, and gaseous eructation. SYN: gastric indigestion. [dys- + G. pepsis, digestion] acid d. d. associated with excess gastric acidity. adhesion d. pain, d., and other symptoms alleged to result from perigastric adhesions. atonic d. d. with impaired tone in the muscular walls of the stomach. SYN: functional d. (1) . fermentative d. d. accompanied by fermentation of the contents of the stomach, usually occurring in gastric dilation. flatulent d. d. with frequent eructations of swallowed air, sometimes without underlying organic disease. functional d. 1. SYN: atonic d.. 2. SYN: nervous d.. nervous d. d. associated with nervousness, tension, or anxiety. SYN: functional d. (2) . reflex d. functional d. excited by reflex irritation from disease elsewhere than in the stomach or intestines.

dyspeptic (dis-pep′tik)
Relating to or suffering from dyspepsia.

dysphagia, dysphagy (dis-fa′je-a, dis′fa-je)
Difficulty in swallowing. SEE ALSO: aglutition. [dys- + G. phago, to eat] d. lusoria d. said to be due to compression by the right subclavian artery arising abnormally from the descending aorta and passing behind the esophagus. [coinage from L. lusus naturae, a sport of nature] d. nervosa, nervous d. SYN: esophagism. sideropenic d. SYN: Plummer-Vinson syndrome. vallecular d. d. caused by food becoming lodged in a vallecula above the epiglottis. SYN: Barclay-Baron disease.

dysphagocytosis (dis-fag′o-si-to′sis)
Disordered phagocytosis, especially failure of cells to ingest and digest bacteria. congenital d. SYN: chronic granulomatous disease.

dysphasia (dis-fa′ze-a)
Impairment in the production of speech and failure to arrange words in an understandable way; caused by an acquired lesion of the brain. SYN: dysphrasia. [dys- + G. phasis, speaking]

dysphemia (dis-fe′me-a)
Disordered phonation, articulation, or hearing due to emotional or mental deficits. [dys- + G. pheme, speech]

dysphonia (dis-fo′ne-a)
Altered voice production. [dys- + G. phone, voice] abductor spasmodic d. a breathy form of spasmodic d. caused by excessive and long vocal cord opening for voiceless phonemes extending into vowels. adductor spasmodic d. a form of spasmodic d. in which excessive closure of the vocal cords affects the initiation and maintenance of phonation. d. plicae ventricularis phonation with the ventricular bands rather than with the vocal cords. spasmodic d. a spasmodic contradiction of the intrinsic muscles of the larynx excited bt attempted phonation, producing either adductor or abductor subtypes caused by a central nervous system disorder. A localized form of movement disorder. SYN: d. spastica, spastic d.. spastic d. SYN: spasmodic d.. d. spastica SYN: spasmodic d..

dysphoria (dis-for′e-a)
A mood of general dissatisfaction, restlessness, depression, and anxiety; a feeling of unpleasantness or discomfort. [dys- + G. phora, a bearing] late luteal phase d. SYN: premenstrual syndrome.

dysphrasia (dis-fra′ze-a)
SYN: dysphasia. [dys- + G. phrasis, speaking]

dyspigmentation (dis′pig-men-ta′shun)
Any abnormality in the formation or distribution of pigment, especially in the skin; usually applied to an abnormal reduction in pigmentation (depigmentation). SEE ALSO: albinism.

dyspinealism (dis-pin′e-al-izm)
Obsolete term for the syndrome supposed to result from the deficiency of pineal gland secretion.

dyspituitarism (dis-pi-too′i-ter-izm)
The complex of phenomena due to excessive or deficient secretion by the pituitary gland.

dysplasia (dis-pla′ze-a)
Abnormal tissue development. SEE ALSO: heteroplasia. [dys- + G. plasis, a molding] anhidrotic ectodermal d. [MIM*305100] a disorder characterized by absent or defective sweat glands, saddle-shaped nose, hyperpigmentation around the eyes, malformed or missing teeth, sparse hair, dysplastic nails, smooth, finely wrinkled skin, syndactyly, absent breast tissue, and occasionally mental retardation; X-linked recessive inheritance, caused by mutation in the ED1 gene on chromosome Xq. There is also an autosomal recessive form [MIM*224900]. SYN: hypohidrotic ectodermal d.. anterofacial d., anteroposterior facial d., anteroposterior d. abnormal growth of the face or cranium in an anteroposterior direction as seen and measured with a cephalogram. asphyxiating thoracic d. [MIM*208500] SYN: asphyxiating thoracic dystrophy. branchiootorenal d. an autosomal dominant disorder manifested by branchial cysts, preauricular skin tags or sinuses, ear anomalies, and kidney malformations. SYN: BOR syndrome. bronchopulmonary d. chronic pulmonary insufficiency seen primarily in infants born prematurely; defined clinically as a persistent supplemental oxygen requirement at 1 month of age and typically seen in infants who required positive pressure ventilation. cerebral d. abnormal development of the telencephalon. cervical d. d. of the uterine cervix, epithelial atypia involving part or all of the thickness of cervical squamous epithelium, occurring most often in young women; appears to regress frequently, but may progress over a long period to carcinoma; severe d. may be microscopically indistinguishable from carcinoma in situ. chondroectodermal d. [MIM*225500] triad of chondrodysplasia, ectodermal d., and polydactyly, with congenital heart defects in over half of patients; autosomal recessive inheritance. Maps to human chromosome 4p16. SYN: Ellis-van Creveld syndrome. cleidocranial d., clidocranial d. SYN: cleidocranial dysostosis. cochlear d. failure of the bony cochlea to develop completely. congenital ectodermal d. incomplete development of the epidermis and skin appendages; the skin is smooth and hairless, the facies abnormal, and the teeth and nails may be affected; sweating may be deficient. SYN: congenital ectodermal defect. congenital hip d. SYN: developmental hip d.. cortical d. a malformative disorganization of the cytoarchitecture of the cortex relative to neurons. SYN: cortical dysgenesis, neuronal migration abnormality. craniocarpotarsal d. SYN: craniocarpotarsal dystrophy. craniodiaphysial d. [MIM*218300] small stature, thickening of the cranial bones with sclerosis and diaphysial widening of tubular bones; autosomal recessive inheritance. There may also be an autosomal dominant form [MIM 122860]. craniometaphysial d. syndrome of metaphysial d. associated with severe sclerosis and overgrowth of bones of the skull (leontiasis ossea) and with hypertelorism. dentin d. a hereditary disorder of the teeth, involving both primary and permanent dentition, in which the clinical morphology and color of the teeth are normal, but the teeth radiographically exhibit short roots [MIM125400], obliteration of the pulp chambers and canals, and mobility and premature exfoliation; autosomal dominant inheritance. In another type of dentin disease the teeth are opalescent [MIM 125420]. developmental hip d. a developmental abnormality in which a neonate's hips easily become dislocated; etiology is complex, with mechanical, familial, hormonal, and birthing presentation all contributing; female predominance is 9:1. SYN: congenital hip d.. diaphysial d. progressive, symmetrical fusiform enlargement of the shafts of long bones characterized by the formation of excessive new periosteal and endosteal bone and irregular conversion of this cortical bone into cancellous bone; anemia does not occur as a rule, as in osteopetrosis. SYN: Engelmann disease. diastrophic d. [MIM*222600] a skeletal d. characterized by scoliosis, hitchhiker thumb due to shortening of the first metacarpal bone, cleft palate, malformed ear with calcification, chondritis, shortening of the Achilles tendon, clubbed foot, and characteristic radiologic findings; autosomal recessive inheritance, caused by mutation in the diastrophic d. sulfate transporter gene (DTDST) on chromosome 5q. SYN: diastrophic dwarfism. ectodermal d. a congenital defect of the ectodermal tissues, including the skin and its appendages; associated with d. of the teeth and hyperthermia. See anhidrotic ectodermal d., hidrotic ectodermal d.. enamel d. SYN: amelogenesis imperfecta. d. epiphysealis multiplex SYN: multiple epiphyseal d.. d. epiphysialis hemimelia SYN: tarsomegaly. d. epiphysialis punctata SYN: chondrodysplasia punctata. epithelial d. a disorder of differentiation of epithelial cells which may regress, remain stable, or progress to invasive carcinoma. faciodigitogenital d. a syndrome of ocular hypertelorism, anteverted nostrils, broad upper lip, saddle-bag or shawl scrotum, protruding umbilicus, and laxity of ligaments resulting in genu recurvatum, flat feet, and hyperextensible fingers; the X-linked form [MIM*305400] is caused by mutation in the FGD1 gene on Xp; autosomal dominant [MIM*100050] and recessive [MIM*227300] forms also exist. SYN: Aarskog-Scott syndrome. familial white folded d. SYN: white sponge nevus. fibromuscular d. idiopathic nonatherosclerotic disease leading to stenosis of arteries, usually the renal arteries, and hypertension; two varieties are fibromuscular hyperplasia and perimuscular fibrosis. fibrous d. of bone a disturbance of medullary bone maintenance in which bone undergoing physiologic lysis is replaced by abnormal proliferation of fibrous tissue, resulting in asymmetric distortion and expansion of bone; may be confined to a single bone (monostotic fibrous d.) or involve multiple bones (polyostotic fibrous d.). fibrous d. of jaws SYN: cherubism. florid osseous d., cemental d. SYN: sclerotic cemental mass. hidrotic ectodermal d. [MIM*129500] congenital dystrophy of the nails and hair with thickened nails and sparse or absent scalp hair; often associated with keratoderma of the palms and soles; teeth and sweat gland function are normal; autosomal dominant inheritance. hypohidrotic ectodermal d. SYN: anhidrotic ectodermal d.. mandibulofacial d. SYN: mandibulofacial dysostosis. McKusick metaphyseal d. SYN: cartilage-hair hypoplasia. metaphysial d. an abnormality that occurs when new bone at the metaphyses of long bones fails to undergo remodeling to the normal tubular structure; the ends of long bones appear to be expanded and porotic, with thin cortex; there may be an associated overgrowth of cranial bones (craniometaphysial d.). Mondini d. congenital anomaly of osseus and membranous otic labyrinth characterized by aplastic cochlea, and deformity of the vestibule and semicircular canals with partial or complete loss of auditory and vestibular function; may be associated with spontaneous cerebrospinal fluid otorrhoea resulting in meningitis. SEE ALSO: Mondini hearing impairment. monostotic fibrous d. fibrous d. of a single bone. SYN: localized osteitis fibrosa, osteitis fibrosa circumscripta. mucoepithelial d. [MIM*158310] an epithelial cell dishesive disease characterized by red, periorificial mucosal lesions of oral, nasal, vaginal, urethral, anal, bladder, and conjunctival mucosa, with cataracts, follicular keratosis, nonscarring alopecia, frequent pulmonary infections, pneumothorax, and sometimes cor pulmonale; autosomal dominant inheritance. multiple epiphyseal d. (EDM) a disorder of epiphyses characterized by difficulty in walking, pain and stiffness of joints, stubby fingers, and often short stature; on X-ray examination, the epiphyses are irregular and mottled, the ossification centers are late in appearance and may be multiple, but the vertebrae are normal. There are at least 3 forms of autosomal dominant inheritance: EDM1 [MIM*132400] due to mutation in the cartilage oligomeric matrix protein gene (COMP) on chromosome 19p; EDM2 [MIM*600304], due to mutation in the type IX collagen gene (COL9A2) on 1p; and EDM3 [MIM*600969], which is linked to an unknown locus. There is also an autosomal recessive form [MIM*226900]. SYN: d. epiphysealis multiplex. neuronal intestinal d. SYN: neuronal hyperplasia. oculoauriculovertebral d., OAV d. [MIM*257700] a syndrome characterized by epibulbar dermoids, preauricular appendages, micrognathia, and vertebral and other anomalies. SYN: Goldenhar syndrome, OAV syndrome. oculodentodigital d. [MIM*164200] microphthalmia, coloboma, or anomalies of the iris associated with malformed and malpositioned teeth and with anomalies of the fingers including syndactyly, campylodactyly, or absent phalanges; autosomal dominant inheritance. There is also a recessive form in which the ocular manifestation is more severe [MIM*257850]. oculovertebral d. microphthalmia, colobomas, or anophthalmia with small orbit, twisted face due to unilateral d. of maxilla, macrostomia with malformed teeth and malocclusion, vertebral malformations, and branched and hypoplastic ribs. SYN: oculovertebral syndrome, Weyers-Thier syndrome. odontogenic d. SYN: odontodysplasia. ophthalmomandibulomelic d. [MIM*164900] an autosomal dominant disorder with corneal clouding and multiple abnormalities of the mandible and limbs. otospondylomegaepiphyseal d. SYN: chondrodystrophy with sensorineural deafness. periapical cemental d. a benign, painless, non-neoplastic condition of the jaws which occurs almost exclusively in middle-aged black females; lesions are usually multiple, most frequently involve vital mandibular anterior teeth, surround the root apices, and are initially radiolucent (becoming more opaque as they mature). SYN: periapical osteofibrosis. polyostotic fibrous d. the occurrence of lesions of fibrous d. in multiple bones, commonly on one side of the body; may occur with areas of pigmentation and endocrine dysfunction (McCune-Albright syndrome). SYN: multifocal osteitis fibrosa, osteitis fibrosa disseminata. pseudoachondroplastic spondyloepiphysial d. SYN: pseudoachondroplasia. retinal d. an overgrowth of glial tissue compensating for aplasia of sensory elements. septooptic d. congenital optic nerve hypoplasia associated with midline cerebral anomalies. SYN: de Morsier syndrome. skeletal dysplasias a heterogeneous group of disorders (over 120 types), each of which results in numerous disturbances of the skeletal system and most of which include dwarfism. SEE ALSO: chondrodystrophy. spondyloepiphyseal d. a group of conditions characterized by growth deficiency of the vertebral column with flattening of the vertebrae or platyspondyly, lack of ossification of the epiphyses, short-trunk dwarfism with limb shortening, and sometimes with other malformations; autosomal dominant [MIM*183900 and MIM*184100], autosomal recessive [MIM*208230 and MIM*271600], and X-linked recessive [MIM*313400] inheritance have been described. spondyloepiphyseal d. congenita (SEDC) [MIM*183900] a skeletal d. characterized by short-trunk dwarfism with short limbs, delayed ossification of the pubic rami and femoral and tibial epiphyses, flattening of the vertebral bodies, myopia, retinal detachment, and cleft palate; autosomal dominant inheritance caused by mutation in the type II collagen gene (COL2A1) on 12q. spondyloepiphyseal d. tarda a skeletal d. of later onset, usually in the second decade, characterized by short stature, flattening of the vertebrae, epiphyseal involvement with bony fusion of the hip joint, premature osteoarthritis, and distinctive radiographic findings. Autosomal dominant [MIM*184100] and X-linked recessive [MIM*313400] forms exist. ventriculoradial d. a congenital syndrome consisting of a ventricular septal defect with associated absence of thumb or radius.

dysplastic (dis-plas′tik)
Pertaining to or marked by dysplasia.

dyspnea (disp-ne′a)
Shortness of breath, a subjective difficulty or distress in breathing, usually associated with disease of the heart or lungs; occurs normally during intense physical exertion or at high altitude. [G. dyspnoia, fr. dys-, bad, + pnoe, breathing] cardiac d. shortness of breath of cardiac origin. exertional d. excessive shortness of breath after exercise. expiratory d. difficulty with the expiratory phase of breathing, often due to obstruction in the larynx or large bronchi, such as by a foreign body. functional d. shortness of breath without apparent underlying disease. nocturnal d. d. occurring at night, several hours after assuming recumbent position. Occurs in heart failure and results from reabsorption of water from dependent areas after removal of effect of gravity, causing hypervolemia, aggravating left-ventricular failure. paroxysmal nocturnal d. acute d. appearing suddenly at night, usually waking the patient from sleep; caused by pulmonary congestion with or without pulmonary edema that results from left-sided heart failure following mobilization of fluid from dependent areas after lying down. Traube d. obsolete eponym for inspiratory d. with maximal expansion of the chest and a slow respiratory rhythm.

dyspneic (disp-ne′ik)
Out of breath; relating to or suffering from dyspnea.

dyspraxia (dis-prak′se-a)
Impaired or painful functioning in any organ. [dys- + G. praxis, a doing]

dysprosium (Dy) (dis-pro′se-um)
A metallic element of the lanthanide (rare earth) series, atomic no. 66, atomic wt. 162.50. [G. dysprositos, hard to get at]

dysproteinemia (dis-pro′ten-e′me-a)
An abnormality in plasma proteins, usually in immunoglobulins.

dysproteinemic (dis-pro-ten-e′mik)
Relating to dysproteinemia.

dysraphism, dysraphia (dis′ra-fizm, dis-raf′e-a)
Defective fusion, especially of the neural folds, resulting in status dysraphicus or neural tube defect. [dys- + G. rhaphe, suture] spinal d. a general term used to describe a collection of congenital abnormalities that include defects in the vertebrae and underlying spine or nerve roots.

dysrhythmia (dis-rith′me-a)
Defective rhythm.rhythm. Cf.:arrhythmia. [dys- + G. rhythmos, rhythm] cardiac d. any abnormality in the rate, regularity, or sequence of cardiac activation. electroencephalographic d. a diffusely irregular brain wave tracing. esophageal d. abnormal motility of the muscular layers of the esophageal wall, such as occurs in esophageal spasm. paroxysmal cerebral d. a diffusely abnormal electroencephalogram often seen with epilepsy.

dyssomnia (dis-som′ne-a)
Disturbance of normal sleep or rhythm pattern.

dysspondylism (dis-spon′di-lizm)
An abnormality of development of the spine or vertebral column. [dys- + G. spondylos, vertebra]

dysstasia (dis-sta′se-a)
Difficulty in standing. SYN: dystasia. [dys- + G. stasis, standing]

dysstatic (dis-tat′ik)
Marked by difficulty in standing.

dyssyllabia (dis-il-la′be-a)
SYN: syllable-stumbling. [dys- + G. syllabe, syllable]

dyssynergia (dis-in-er′je-a)
An aspect of ataxia, in which an act is not performed smoothly or accurately because of lack of harmonious association of its various components; usually used to describe abnormalities of movement caused by cerebellar disorders. [dys- + G. syn, with, + ergon, work] d. cerebellaris myoclonica a familial disorder beginning in late childhood, characterized by progressive cerebellar ataxia, action myoclonus and preserved intellect. Probably due to multiple causes, mitochondrial abnormalities being one. SYN: dentatorubral cerebellar atrophy with polymyoclonus. detrusor sphincter d. a disturbance of the normal relationship between bladder (detrusor) contraction and sphincter relaxation during voluntary or involuntary voiding efforts.

SYN: dysstasia.

dystelephalangy (dis-tel′e-fa-lan′je)
Bowing of the distal phalanx of the little finger. [dys- + G. telos, end, + phalanx]

dysthymia (dis-thi′me-a)
A chronic mood disorder manifested as depression for most of the day, more days than not, accompanied by some of the following symptoms: poor appetite or overeating, insomnia or hypersomnia, low energy or fatigue, low self-esteem, poor concentration, difficulty making decisions, and feelings of hopelessness. See mood disorders, under disorder, endogenous depression, exogenous depression. [dys- + G. thymos, mind, emotion]

dysthymic (dis-thi′mik)
Relating to dysthymia.

dystocia (dis-to′se-a)
Difficult childbirth. [G. dystokia, fr. dys-, difficult, + tokos, childbirth] arrest of active phase d. stoppage of further cervical dilation for longer than 2 hours after labor has entered active phase (generally defined as active contraction with at least 4 cm of cervical dilatation); causes include inadequate uterine contractions and cephalopelvic disproportion. arrest of descent d. failure of fetus to descend after an hour in second stage despite maternal effort; typically due to inadequate maternal effort, fetal malposition, or fetal size. fetal d. d. due to an abnormality of the fetus. maternal d. d. caused by an abnormality or physical problem in the mother. placental d. retention or difficult delivery of the placenta. shoulder d. arrest of normal labor after delivery of the head by impaction of the anterior shoulder against the symphysis pubis.

dystonia (dis-to′ne-a)
A state of abnormal (either hypo- or hyper-) tonicity in any of the tissues resulting in impairment of voluntary movement. [dys- + G. tonos, tension] d. lenticularis d. resulting from a lesion of the lenticulate nucleus. d. musculorum deformans a genetic, environmental, or idiopathic disorder, usually beginning in childhood or adolescence, marked by muscular contractions that distort the spine, limbs, hips, and sometimes the cranial-innervated muscles. The abnormal movements are increased by excitement and, at least initially, abolished by sleep. The musculature is hypertonic when in action, hypotonic when at rest. Hereditary forms usually begin with involuntary posturing of the foot or hand (autosomal recessive form [MIM*224500]) or of the neck or trunk (autosomal dominant form [MIM*128100]); both forms may progress to produce contortions of the entire body. SYN: torsion disease of childhood, torsion d., Ziehen-Oppenheim disease. torsion d. SYN: d. musculorum deformans.

dystonic (dis-ton′ik)
Pertaining to dystonia.

dystopia (dis-to′pe-a)
Faulty or abnormal position of a part or organ. SYN: allotopia, malposition. [dys- + G. topos, place] pituitary d. failure of union of neurohypophysis and adenohypophysis.

dystopic (dis-top′ik)
Pertaining to, or characterized by, dystopia. SEE ALSO: ectopic.

dystrophia (dis-tro′fe-a)
SYN: dystrophy. [L. fr. G. dys-, bad, + trophe, nourishment] d. adiposogenitalis SYN: adiposogenital dystrophy. d. brevicollis a condition marked by symptoms of d. adiposogenitalis together with a deforming shortness of the neck, but without synostosis of the cervical vertebrae seen in Klippel-Feil syndrome. d. myotonica SYN: myotonic dystrophy. d. unguium dystrophy of the nails.

dystrophic (dis-trof′ik)
Relating to dystrophy.

dystrophin (dis-tro′fin)
A protein found in the sarcolemma of normal muscle; it is missing in individuals with pseudohypertrophic muscular dystrophy and in other forms of muscular dystrophy; its role may be in the linkage of the cytoskeleton of the muscle cell to extracellular protein. SYN: distropin, dystropin.

dystrophy (dis′tro-fe)
Progressive changes that may result from defective nutrition of a tissue or organ. SYN: dystrophia. [dys- + G. trophe, nourishment] adiposogenital d. a disorder characterized primarily by obesity and hypogonadotrophic hypogonadism in adolescent boys; dwarfism is rare, and when present is thought to reflect hypothyroidism. Visual loss, behavioral abnormalities, and diabetes insipidus may occur. Fröhlich syndrome often is used synonymously for this disorder. Although the original case involved a pituitary tumor, most cases are thought to result from hypothalamic dysfunction in areas regulating appetite and gonadal development. The most common causes are pituitary and hypothalamic neoplasms. SYN: adiposis orchica, adiposogenital degeneration, adiposogenital syndrome, dystrophia adiposogenitalis, Fröhlich syndrome, hypophysial syndrome, hypothalamic obesity with hypogonadism, Launois-Cléret syndrome. adult foveomacular retinal d. an autosomal dominant disorder presenting in the fifth decade with a mild decrease in vision and subfoveal, round yellow lesion with a central hyperpigmented spot. adult pseudohypertrophic muscular d. [MIM*310200.0002] SYN: Becker muscular d.. anterior corneal d. corneal opacification with involvement of the epithelium, basement membrane, or Bowman membrane of the cornea. asphyxiating thoracic d. [MIM*208500] hereditary hypoplasia of the thorax, associated with pelvic skeletal abnormality. SYN: asphyxiating thoracic chondrodystrophy, asphyxiating thoracic dysplasia, Jeune syndrome, thoracic-pelvic-phalangeal d.. Becker muscular d. a hereditary muscle disorder of late onset, usually in the second or third decade, affecting the proximal muscles with characteristic pseudohypertrophy of the calves; clinical features similar to Duchenne muscular d. but much milder and not a genetic lethal; X-linked recessive inheritance, with both Becker and Duchenne dystrophies caused by mutation in the dystrophin gene on Xp. Cf.:Duchenne d.. SYN: adult pseudohypertrophic muscular d., Becker-type tardive muscular d.. Becker-type tardive muscular d. SYN: Becker muscular d.. central areolar choroidal d. an autosomal dominant progressive disorder of vision loss with well-demarcated areas of atrophy of retinal pigment epithelium and choriocapillaris. central cloudy corneal d. of François an autosomal dominant opacification of the central corneal stroma consisting of cloudy polygonal areas. central crystalline corneal d. of Snyder an autosomal dominant opacification of the central corneal stroma by needle-shaped polychromatic crystals. childhood muscular d. SYN: Duchenne d.. Cogan d. SYN: map-dot-fingerprint d.. cone d. a retinal abnormality in which color perception is severely deficient and typical changes occur in electroretinogram. See achromatopsia. SYN: cone degeneration. cone-rod retinal d. a disorder affecting the retinal cones more than the rods, characterized by diminished central vision and color vision. congenital hereditary endothelial d. a dominantly or recessively inherited condition characterized by a cloudy, thickened cornea at birth or in the neonatal period. corneal d. [MIM*217600] central corneal opacification, usually bilateral, symmetrical, involving predominantly epithelial, stromal, or endothelial layers, often in a typical pattern; autosomal recessive inheritance. craniocarpotarsal d. [MIM*193700] a syndrome characterized by specific facial features with sunken eyes, hypertelorism, long philtrum, small nose, and small mouth with pursing of lips as in whistling, and skeletal malformations with ulnar deviation of hands, camptodactyly, talipes equinovarus, and frontal bone defects; autosomal dominant inheritance. SYN: craniocarpotarsal dysplasia, Freeman-Sheldon syndrome, whistling face syndrome. Duchenne d. the most common childhood muscular d., with onset usually before age 6. Characterized by symmetric weakness and wasting of first the pelvic and crural muscles and then the pectoral and proximal upper extremity muscles; pseudohypertrophy of some muscles, especially the calf; heart involvement; sometimes mild mental retardation; progressive course and early death, usually in adolescence. X-linked inheritance (affects males and transmitted by females). SYN: childhood muscular d., Duchenne disease, pseudohypertrophic muscular d.. Emery-Dreifuss muscular d. a generally benign type of muscular d., with onset in childhood or early adulthood. Weakness begins with the pectoral girdle and proximal upper extremity muscles and spreads to the pelvic girdle and distal lower extremity muscles. Contractures of the elbow, flexors, neck flexors, and calf muscles often occur; muscle pseudohypertrophy and mental retardation do not occur. A cardiomyopathy is common. An X-linked inherited disorder, nonallelic to Duchenne muscular d.. facioscapulohumeral muscular d. [MIM*158900] a highly variable hereditary disorder with onset in childhood or adolescence, characterized by weakness and wasting, sometimes asymmetrical, mainly of the muscles of the face, shoulder girdle, arms, and later, pelvic girdle and legs; autosomal dominant inheritance. SYN: facioscapulohumeral atrophy, Landouzy-Dejerine d.. Favre d. SYN: vitreotapetoretinal d.. fingerprint d. a condition wherein fine parallel lines in a fingerprint configuration area are seen in the basal epithelial layer and basement membrane of the corneal epithelium. SEE ALSO: map-dot-fingerprint d.. fleck d. of cornea [MIM*121850] a bilateral occurrence of subtle spots in the corneal stroma; the spots vary in size and shape, and have sharp margins and clear centers; photophobia may occur; autosomal dominant inheritance. Fuchs endothelial d. common corneal d. with autosomal dominant inheritance, characterized by keratopathia guttata with loss of endothelium and progressive corneal edema. gelatinous droplike corneal d. a bilateral, autosomal recessive condition characterized by mulberrylike elevated amyloid deposits involving the epithelium and anterior corneal stroma. granular corneal d. an autosomal dominant disorder characterized by hyaline deposits in the corneal stroma. Groenouw corneal d. 1. a granular type of corneal d., with autosomal dominant inheritance [MIM*121900], caused by mutation in the transforming growth factor, beta-induced, gene (TGFB1) encoding keratoepithelin on chromosome 5q; 2. a progressive macular type of corneal d., characterized by punctate opacities and episodes of photophobia, corneal erosion, and foreign body sensation; autosomal recessive inheritance. gutter d. of cornea a marginal furrow usually inferiorly about 1 mm from the limbus; and sometimes bilateral. SYN: keratoleptynsis (1) . hereditary epithelial d. SYN: Meesman d.. hypertrophic d. SYN: squamous cell hyperplasia. infantile neuroaxonal d. a rare, familial disorder of early childhood manifested as progressive psychomotor deterioration, increased reflexes, Babinski sign, hypotonia and progressive blindness. Pathologically, eosinophilic spheroids of swollen axoplasm are found in various central nervous system nuclei. Landouzy-Dejerine d. SYN: facioscapulohumeral muscular d.. lattice corneal d. [MIM*122200] a corneal d. due to localized accumulation of amyloid in a reticular pattern; manifest at puberty and progressing slowly until eventually useful vision is lost; autosomal dominant inheritance, caused by mutation in the transforming growth factor, beta-induced, gene (TGFB1) encoding keratoepithelin on 5q. Leyden-Möbius muscular d. SYN: limb-girdle muscular d.. limb-girdle muscular d. [MIM*253600] a group of muscular dystrophies, probably heterogeneous in nature. Onset usually in childhood or early adulthood and both sexes affected. Characterized by weakness and wasting, usually symmetrical, of the pelvic girdle muscles, the shoulder girdle muscles, or both, but not the facial muscles. Muscle pseudohypertrophy, heart involvement, and mental retardation are absent. Autosomal dominant and recessive inheritance have been described. SYN: Leyden-Möbius muscular d., pelvofemoral muscular d., scapulohumeral muscular d.. macular corneal d. an autosomal recessive disorder characterized by glycosaminoglycan deposits in the corneal stroma. macular retinal d. a group of disorders involving predominantly the posterior portion of the ocular fundus, due to degeneration in the sensory layer of the retina, retinal pigment epithelium, Bruch membrane, choroid, or a combination of these tissues. See Stargardt disease, Best disease. map-dot-fingerprint d. fingerprint d. accompanied by maplike patterns and microcystic epithelial inclusions. SYN: Cogan d.. Meesman d. [MIM*122100] epithelial d. characterized by progressive cysts and opacities of the corneal epithelium, with onset in infancy; autosomal dominant inheritance with incomplete penetrance. SYN: hereditary epithelial d.. microcystic epithelial d. bilateral, symmetrical intraepithelial cysts in the central area of the cornea of healthy women, without hereditary predisposition. mucopolysaccharide keratin d. a histologic finding seen in the surface epithelium of oral inflammatory fibrous hyperplasia, consisting of homogeneous eosinophilic pools of material in the superficial spinous layer. muscular d. a general term for a number of hereditary, progressive degenerative disorders affecting skeletal muscles, and often other organ systems as well. SYN: myodystrophy, myodystrophia. myotonic d. [MIM*160900] the most common adult muscular d., characterized by progressive muscle weakness and wasting of some of the cranial innervated muscles, as well as the distal limb muscles; other clinical features include myotonia, cataracts, hypogonadism, cardiac abnormalities, and frontal balding; onset usually in the the third decade; autosomal dominant inheritance caused by abnormal trinucleotide repeat expansion in the dystrophia myotonica protein kinase gene (DMPK) on chromosome 19q. This disorder demonstrates anticipation (increase in severity in successive generations because of successive amplification of the trinucleotide repeats); the severe congenital form is almost always confined to the offspring of affected women. SYN: dystrophia myotonica, myotonia atrophica, myotonia dystrophica, Steinert disease. neuroaxonal d. a rare disorder that begins in the second year of life and is relentlessly progressive; clinically characterized initially by walking difficulties, weakness, and areflexia, later followed by corticospinal and pseudobulbar findings, blindness, loss of pain appreciation, and mental deterioration; pathologically, eosinophilic spheroids of swollen axoplasm are found in various central nuclei; autosomal recessive inheritance. oculopharyngeal d. a dominantly inherited form of chronic progressive external ophthalmoplegia usually presenting in middle life or old age with chronic ptosis and/or difficulty swallowing. Many sufferers have French-Canadian ancestry. pattern retinal d. a spectrum of autosomal dominant diseases affecting the retinal pigment epithelium, leading to mild to moderate vision loss. pelvofemoral muscular d. SYN: limb-girdle muscular d.. posterior corneal d. opacification with primary involvement of the endothelium of the cornea. posterior polymorphous corneal d. an autosomal dominant condition characterized by vesicular and linear abnormalities of the corneal endothelium; occasionally leads to corneal edema. pre-Descemet corneal d. opacification with primary involvement of the posterior stroma of the cornea. progressive tapetochoroidal d. SYN: choroideremia. pseudohypertrophic muscular d. SYN: Duchenne d.. reflex sympathetic d. (RSD) diffuse persistent pain usually in an extremity often associated with vasomotor disturbances, trophic changes, and limitation or immobility of joints; frequently follows some local injury. SEE ALSO: causalgia. SYN: shoulder-hand syndrome, sympathetic reflex d.. Reis-Bücklers corneal d. an autosomal dominant disorder of Bowman membrane of the cornea, characterized by a reticular haze and associated with recurrent corneal erosions. ringlike corneal d. [MIM*121900] threadlike opacities of the anterior corneal stroma, with acute, painful onset followed by decreased vision; autosomal dominant inheritance, caused by mutationin the transforming growth factor, beta-induced, gene (TGFB1) encoding keratoepithelium on chromosome 5q. scapulohumeral muscular d. SYN: limb-girdle muscular d.. stromal corneal d. opacification with involvement of the middle layer of the cornea. sympathetic reflex d. SYN: reflex sympathetic d.. thoracic-pelvic-phalangeal d. SYN: asphyxiating thoracic d.. twenty-nail d. longitudinal ridging of all of the nails; seen in alopecia areata and lichen planus. vitelliform retinal d. SYN: Best disease. vitreotapetoretinal d. [MIM*268100] autosomal recessive bilateral peripheral and central retinoschisis with pigmentary degeneration of the retina, chorioretinal atrophy, vitreous degeneration, and night blindness. SYN: Favre d.. vortex corneal d. a swirling pattern of abnormally pigmented corneal epithelial cells, seen in Fabry disease and in response to certain medications (including chloroquine, chlorpromazine, and amiodarone). vulvar d. a spectrum of vulvar eruptions consisting of white atrophic papules, including lichen sclerosus et atrophicus, squamous cell hyperplasia (hypertrophic d.), or a combination of these (mixed d.). SEE ALSO: lichen sclerosus et atrophicus.

SYN: dystrophin.

dystropy (dis′tro-pe)
Abnormal or eccentric behavior. [dys- + G. tropos, a turning]

dysuria (dis-u′re-a)
Difficulty or pain in urination. SYN: dysury. [dys- + G. ouron, urine]

dysuric (dis-u′rik)
Relating to or suffering from dysuria.

dysury (dis′u-re)
SYN: dysuria.

dysversion (dis-ver′zhun)
A turning in any direction, less than inversion; particularly d. of the optic nerve head (situs inversus of the optic disk). [dys- + L. verto, to turn]

d-epirhamnose (ep-i-ram′noz)
6-Deoxy-d-glucose;occurs in plants and bacteria in combination with diacylglycerol and is often sulfated (at C-6) in glycolipids. SYN: quinovose.

d-galacturonic acid (ga-lak-toor-on′ik)
The d-isomer is an oxidation product of d-galactose, in which the 6-CH2OH group has become a –COOH group; occurs in many natural products ( e.g., pectins) and cell walls. SYN: pectic acid.

d-glucose (G, Glc) (gloo′kos)
Dextrose;a dextrorotatory monosaccharide (hexose) found in the free state in fruits and other parts of plants, and combined in glucosides, disaccharides (often with fructose in sugars), oligosaccharides, and polysaccharides; it is the product of complete hydrolysis of cellulose, starch, and glycogen. Free glucose also occurs in the blood, where it is a principal energy source for use by body tissues (normal human concentration, 70–110 mg per 100 mL); in diabetes mellitus, it appears in the urine. The epimers of d-glucose are d-allose, d-mannose, d-galactose, and l-idose. Dextrose should not be confused with the l-isomer, which is sinistrose. SYN: cellohexose. activated glucose a nucleoside diphosphoglucose such as UDPglucose. glucose dehydrogenase converts β-d-glucose to d-glucono-δ-lactone, transferring hydrogen to NAD+ or NADP+. Cf.:glucose oxidase. liquid glucose a pharmaceutic aid consisting of dextrose, dextrins, maltose, and water, obtained by the incomplete hydrolysis of starch. glucose oxidase an antibacterial flavoprotein enzyme, obtained from Penicillum notatum and other fungi, which is antibacterial only in the presence of glucose and oxygen, its effect being due to the oxidation of d-glucose to d-glucono-δ-lactone, with the coconversion of O2 to H2O2; used in the preservation of food and in assays for glucose levels. SYN: glucose oxyhydrase, microcide. glucose oxyhydrase SYN: glucose oxidase. glucose phosphomutase SYN: phosphoglucomutase.

d-glucose 1,6-bisphosphate
A bisphosphorylated derivative of d-glucose that is a required intermediate in the interconversion of d-glucose 1-phosphate and d-glucose 6-phosphate.

d-glucose 1-phosphate
An important intermediate in glycogenesis and glycogenolysis. SYN: Cori ester.

d-glucose 6-phosphate
A key intermediate in glycolysis, glycogenolysis, pentose phosphate shunt, etc.; elevated levels inhibit brain hexokinase and glycolysis. SYN: Robison ester, Robison-Embden ester.

d-glucuronolactone (gloo′ku-ro′no-lak′ton)
Used as a means of orally administering glucuronic acid in the management of collagen and joint diseases. SYN: glucurone.

d-glyceric aciduria (gli-ser′ic as-id-oo-re-a)
1. Elevated levels of d-glyceric acid in the urine. 2. An inborn error in metabolism resulting in d-glyceric aciduria (1).

d-glycogenous (gli-koj′e-nus)
SYN: glycogenetic.

SYN: sedoheptulose.

A ketoheptose of the mannose configuration, occurring in the urine of individuals who have eaten a large quantity of avocados.

D-homosteroid (ho-mo-ster′oyd)
A steroid in which the D ring is made up of six carbon atoms instead of the usual five.

SYN: 5-hydroxylysine.

SYN: atropine.

d-sorbitol-6-phosphate dehydrogenase
An oxidoreductase that catalyzes the interconversion of d-sorbitol 6-phosphate and NAD+ to d-fructose 6-phosphate and NADH. A key step in fructose metabolism in the lens. SYN: ketose reductase.


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