TERMIUM Plus^®

Record 1,  Textual support,  English

Record number: 1, Textual support number: 1 CONT

Central areolar choroidal dystrophy(CACD) is a hereditary retinal disorder that primarily affects the macula. In the early stages, there is subtle, mottled depigmentation in the posterior pole. Ultimately, the depigmentation enlarges into in a well-circumscribed round or oval area of atrophy of the retinal pigment epithelium(RPE) and choriocapillaris in the center of the macula. Patients usually become symptomatic in the [third] to [fourth] decade when a fine, hardly detectable, mottling of the RPE leads to the development of absolute central visual scotomas. Later, between the [fourth] and [seventh] decade of life, progressive macular atrophy leads to a dramatic decline in central visual acuity and severe visual disability. CACD may be autosomal dominant or recessive; however, autosomal-recessive cases are rare. Although CACD has a genetic basis, sporadic cases have been reported.  3, record 1, English, - central%20areolar%20choroidal%20dystrophy

Record 1,  Textual support,  French

Record number: 1, Textual support number: 1 DEF

Atrophie aréolaire centrale maculaire héréditaire et primitive aux bords nets avec quelques petites taches jaunâtres ressemblant à des druses autour de la lésion ou au pôle postérieur.  1, record 1, French, - dystrophie%20choro%C3%AFdienne%20ar%C3%A9olaire%20centrale

Record 1,  Textual support,  Spanish

Record 2,  Textual support,  English

Record number: 2, Textual support number: 1 DEF

The original person presenting with, or likely to be subject to, a mental or physical disorder and whose case serves as the stimulus for a hereditary or genetic study.  4, record 2, English, - proband

Record number: 2, Textual support number: 1 OBS

In genetics, the index case is the case of the original patient (i.e. propositus or proband) that stimulates investigation of other members of the family to discover a possible genetic factor.  5, record 2, English, - proband

Record 2,  Textual support,  French

Record number: 2, Textual support number: 1 DEF

Malade qui consulte le premier pour une affection génétique et qui déclenche une enquête génétique dans sa famille afin de déterminer le mode de transmission de cette affection.  2, record 2, French, - proposant

Record 2,  Textual support,  Spanish

Record number: 2, Textual support number: 1 CONT

El probando es aquel miembro de la familia vivo que ha desarrollado cáncer en el que existen las mayores probabilidades de encontrar una mutación y por quien debe iniciarse el estudio genético.  3, record 2, Spanish, - probando

Record number: 2, Textual support number: 2 CONT

En general, el primer individuo que se diagnostica dentro de una familia se denomina caso índice o probando. A partir de su diagnóstico, se debe realizar una evaluación clínica en cascada de los familiares, empezando por los de primer grado (progenitores, hermanos, hijos).  2, record 2, Spanish, - probando

Record 3,  Textual support,  English

Record number: 3, Textual support number: 1 DEF

The complete form of a hereditary disorder which is called mandibulofacial dysostosis. The Franceschetti syndrome is characterized by antimongoloid slant of the palpebral fissures, coloboma of the lower lid, micrognathia and hypoplasia of the zygomatic arches, and microtia. It is transmitted as an autosomal dominant trait.  1, record 3, English, - Franceschetti%26rsquo%3Bs%20disease

Record number: 3, Textual support number: 1 CONT

(Trisomy 18) Finally, the small lower jaw gives a receding chin suggestive of Franceschetti’s disease.  1, record 3, English, - Franceschetti%26rsquo%3Bs%20disease

Record 3,  Textual support,  French

Record number: 3, Textual support number: 1 DEF

Affection du fond d'œil se caractérisant par la présence, au niveau ou autour du pôle postérieur (parfois à la périphérie), de taches jaunes situées dans les couches profondes de la rétine, disséminées ou groupées en grappe, de forme variable (arrondie, allongée, ou étoilée).  1, record 3, French, - maladie%20de%20Franceschetti

Record number: 3, Textual support number: 1 CONT

(Trisomie 18) Enfin, la mâchoire inférieure est petite, le menton nettement en retrait sur le massif facial donnant un aspect pouvant rappeler la maladie de Franceschetti.  1, record 3, French, - maladie%20de%20Franceschetti

Record 3,  Textual support,  Spanish

Record 4,  Textual support,  English

Record number: 4, Textual support number: 1 DEF

A semirecessive autosomal hereditary disorder under the control of more than one locus involving up to 100-fold amounts of cystine in the cells, in the lysosomes.  1, record 4, English, - cystinosis

Record 4,  Textual support,  French

Record number: 4, Textual support number: 1 DEF

Affection congénitale caractérisée par un dépôt de cystine cristallisée dans les tissus comme le foie, le rein, la rate, la moelle osseuse, le système histiocytes-macrophages, etcetera.  1, record 4, French, - cystinose

Record 4,  Textual support,  Spanish

Record number: 4, Textual support number: 1 DEF

Enfermedad hereditaria que se transmite en forma autosómica recesiva, caracterizada por un trastorno de metabolismo de la cistina, la cual se deposita en los tejidos (sistema reticuloendotelial del hígado, del bazo, de los pulmones, de los ganglios linfáticos).  1, record 4, Spanish, - cistinosis

Record 5,  Textual support,  English

Record number: 5, Textual support number: 1 DEF

A hereditary disorder in which the greater proportion of erythrocytes are elliptical in shape, and which is characterized by varying degrees of increased red cell destruction and anemia.  1, record 5, English, - elliptocytosis

Record 5,  Textual support,  French

Record number: 5, Textual support number: 1 DEF

Anomalie héréditaire caractérisée par la forme ovale de la plupart des érythrocytes circulants.  2, record 5, French, - elliptocytose

Record 5,  Textual support,  Spanish

Record 6,  Textual support,  English

Record number: 6, Textual support number: 1 DEF

A hereditary disorder occurring in two forms : the complete form(Franceschetti's syndrome) is characterized by antimongoloid slant of the palpebral fissures, coloboma of the lower lid, micrognathia and hypoplasia of the zygomatic arches, and microtia. It is transmitted as an auto-somal dominant trait. The incomplete form(Treacher Collins syndrome) is characterized by the same anomalies in less pronounced degree. It occurs sporadically, but an autosomal dominant mode of transmission is suspected.  2, record 6, English, - mandibulofacial%20dysostosis

Record number: 6, Textual support number: 1 CONT

The syndrome ... consists of certain associated congenital and familial deformities of the ears, malar bones, lips, chin and lower eyelids.... There may be microtia, meatal atresia and auricular fistulae. Malformation of the middle and inner ear produces conductive or perceptive deafness....  3, record 6, English, - mandibulofacial%20dysostosis

Record 6,  Textual support,  French

Record number: 6, Textual support number: 1 DEF

[...] maladie héréditaire dominante, avec anomalies de la face, de la bouche et des oreilles, due à une hypoplasie osseuse qui porte surtout sur les os malaires (pommettes).  1, record 6, French, - dysostose%20mandibulo%2Dfaciale

Record number: 6, Textual support number: 1 OBS

Le nez paraît important en raison de l'hypoplasie de l'étage moyen mais les narines sont étroites et les cartilages alaires, hypoplasiques. La bouche est trop grande et des fissures borgnes s'ouvrent entre les commissures et les oreilles. Les dents sont mal plantées, une division palatine est fréquente. La micrognathie est constante et importante. Le pavillon de l'oreille est malformé, hypoplasique avec une atrésie du canal auditif, des appendices et fistules pré-auriculaires. Ces anomalies s'accompagnent d'altérations des osselets responsables d'une surdité de conduction. [...] La transmission est dominante autosomique à expression très variable.  2, record 6, French, - dysostose%20mandibulo%2Dfaciale

Record 6,  Textual support,  Spanish

Record 7,  Textual support,  English

Record number: 7, Textual support number: 1 DEF

A rare disorder in which the skin, which is neither elastic nor fragile, hangs loosely in redundant folds. It may occur in an acquired or a hereditary form. Autosomal dominant and recessive forms of cutis laxa have been described.  2, record 7, English, - cutis%20laxa

Record 7,  Textual support,  French

Record number: 7, Textual support number: 1 DEF

Affection rare, congénitale ou acquise, caractérisée par une peau extensible, mais pas hyperélastique, formant des plis flasques.  2, record 7, French, - cutis%20laxa

Record number: 7, Textual support number: 1 OBS

La cutis laxa peut être l'unique expression d'une affection transmise de façon autosomique récessive ou être un symptôme accompagnateur d'une neurofibromatose de Recklinghausen.  3, record 7, French, - cutis%20laxa

Record 7,  Textual support,  Spanish

Record 8,  Textual support,  English

Record number: 8, Textual support number: 1 DEF

A hereditary disorder of metabolism for amino acids.  2, record 8, English, - aminoacidopathy

Record number: 8, Textual support number: 1 CONT

Plasma amino acid analysis ... can be more diagnostic when metabolic aminoacidopathy is suspected.  1, record 8, English, - aminoacidopathy

Record 8,  Textual support,  French

Record number: 8, Textual support number: 1 CONT

Pathologie métabolique : se méfier devant une hépatomégalie, des manifestations neurologiques paroxystiques, une odeur anormale de l'haleine ou des urines. Parmi les causes fréquentes : vomissements acétonémiques, diabète décompensé, amino-acidopathie.  1, record 8, French, - amino%2Dacidopathie

Record 8,  Textual support,  Spanish

Record 9,  Textual support,  English

Record number: 9, Textual support number: 1 DEF

A hereditary disorder characterized by pronounced sclerosis of all the bones. It is primarily due to a defect in absorption of primary spongiosa in the process of enchondral bone formation. Bandlike areas of compact bone form at the epiphyseal lines of the long bones which are flask shaped and broadened at both ends. Multiple fractures often occur as a result of increased bone fragility.  4, record 9, English, - osteopetrosis

Record 9,  Textual support,  French

Record number: 9, Textual support number: 1 DEF

Maladie osseuse héréditaire et familiale, caractérisée principalement par une ostéosclérose généralisée provenant, semble-t-il, d'un défaut de la résorption ostéoclastique. Elle est caractérisée cliniquement par une fragilité anormale des os, entraînant des fractures à répétition, et radiologiquement par une hyperopacité diffuse du squelette, avec hypertrophie en masse et striation transversale des métaphyses.  2, record 9, French, - ost%C3%A9op%C3%A9trose

Record 9,  Textual support,  Spanish

Record number: 9, Textual support number: 1 DEF

Enfermedad congénita presente desde el nacimiento en la que los huesos son superdensos [que resulta] de un desequilibrio entre la formación de hueso y la destrucción de hueso, procesos ambos necesarios para el desarrollo y mantenimiento de un hueso normal.  1, record 9, Spanish, - osteopetrosis

Record number: 9, Textual support number: 1 CONT

En la osteopetrosis, las células que destruyen el hueso, los osteoclastos, generalmente se encuentran en menor número o son menos eficaces en la destrucción de hueso.  1, record 9, Spanish, - osteopetrosis

Record 10,  Textual support,  English

Record number: 10, Textual support number: 1 DEF

Hereditary metabolic disorder affecting the central nervous system and characterized by incoordination, mental retardation, aggressive behaviour, and compulsive biting. The cause of the syndrome is a defective organic catalyst or enzyme, hypoxanthine-guanine-phosphoribosyl transferase, which normally is particularly active in brain cells and is involved in the metabolism of purines.  1, record 10, English, - Lesch%2DNyhan%20syndrome

Record number: 10, Textual support number: 1 OBS

Lesch-Nyhan syndrome is transmitted by a recessive sex-linked gene and generally affects males.  2, record 10, English, - Lesch%2DNyhan%20syndrome

Record 10,  Textual support,  French

Record number: 10, Textual support number: 1 OBS

Le syndrome est causé par une absence d'enzyme : l'hypoxanthine - guanine - phospho - ribosyl - transférase.  2, record 10, French, - syndrome%20de%20Lesch%2DNyhan

Record 10,  Textual support,  Spanish

Record number: 10, Textual support number: 1 CONT

El síndrome de Lesch-Nyhan es una enfermedad metabólica hereditaria caracterizada por la carencia total de la HPRT (hidroxantina fosforibosil transferasa), enzima que cataliza la conversión de la hipoxantina a inosina-5-monofosfato.  1, record 10, Spanish, - s%C3%ADndrome%20de%20Lesch%2DNyhan

Record number: 10, Textual support number: 1 OBS

La enfermedad se caracteriza por hiperuricemia y gota en niños varones.  1, record 10, Spanish, - s%C3%ADndrome%20de%20Lesch%2DNyhan

Record 11,  Textual support,  English

Record number: 11, Textual support number: 1 CONT

Hereditary predisposition-You may be at five times the risk for [borderline personality disorder] if a close family member(mother, father or sibling) has it.  1, record 11, English, - hereditary%20predisposition

Record 11,  Textual support,  French

Record 11,  Textual support,  Spanish

Record 12,  Textual support,  English

Record number: 12, Textual support number: 1 CONT

Spider lamb syndrome is a heritable congenital abnormality caused by a recessive gene that produces a range of skeletal deformities in lambs. The problem, which seem to have been first observed in the early 1970’s, became a topic of serious concern to breeders in the early and middle 1980’s. Many of the most popular bloodlines in the Suffolk and Hampshire breeds seemingly carried this damaging gene. Sheep which had tracings in their pedigrees to suspected carriers of this gene were said "grey" pedigrees, whereas those sheep which had no apparent incidence of carriers in their pedigrees were designated as "white pedigreed" sheep.  5, record 12, English, - spider%20syndrome

Record number: 12, Textual support number: 2 CONT

Ovine hereditary chondrodysplasia, commonly called Spider Lamb Syndrome(SLS), is a recessive genetic disorder causing skeletal deformities in young lambs. Common features include abnormally long, bent limbs and curvature of the spine.  3, record 12, English, - spider%20syndrome

Record 12,  Textual support,  French

Record 12,  Textual support,  Spanish

Record 13,  Textual support,  English

Record number: 13, Textual support number: 1 CONT

Gc globulin and plasma gelsolin may... be parts of an actin-scavenging system [which] may be important in cystic fibrosis, the most common hereditary disorder affecting people of European descent.  1, record 13, English, - actin%2Dscavenging%20system

Record 13,  Textual support,  French

Record number: 13, Textual support number: 1 CONT

Gc et la gelsoline circulante disparaissent-elles parce qu'elles sont utilisées pour l'élimination de l'actine plasmatique? On espère que ce système d'évacuation de l'actine plasmatique aidera à lutter contre la mucoviscidose, la maladie génétique la plus importante des individus de type européen.  1, record 13, French, - syst%C3%A8me%20d%27%C3%A9vacuation%20de%20l%27actine%20plasmatique

Record 13,  Textual support,  Spanish

Record 14,  Textual support,  English

Record number: 14, Textual support number: 1 CONT

Craniolofacial dysostosis is an hereditary disorder characterized by acrocephaly, exophthalmas, hypertelorism, strabismus, parrot-beaked nose, and hypoplastic maxilla with relative mandibular prognathism.  2, record 14, English, - parrot%2Dbeaked%20nose

Record 14,  Textual support,  French

Record number: 14, Textual support number: 1 CONT

La dysostose cranio-faciale, ou maladie de Crouzon, est caractérisée par : 1) une acrocéphalie par fermeture prématurée de la suture coronale ou des sutures coronale et sagittale, avec exophtalmie; 2) une hypoplasie des maxillaires supérieurs, qui entraîne une déformation du nez en bec de perroquet, une dépression des régions sous-orbitaires, une brièveté anormale de la lèvre supérieure, une déformation ogivale de la voûte du palais, un prognathisme.  1, record 14, French, - nez%20en%20bec%20de%20perroquet

Record 14,  Textual support,  Spanish

Record 15,  Textual support,  English

Record number: 15, Textual support number: 1 DEF

Any pathologic condition whose etiology is predominantly genetic.  2, record 15, English, - hereditary%20disorder

Record 15,  Textual support,  French

Record number: 15, Textual support number: 1 OBS

Rapport hebdomadaire des maladies au Canada.  2, record 15, French, - trouble%20h%C3%A9r%C3%A9ditaire

Record 15,  Textual support,  Spanish