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HYPERTELORISME [8 records]
Record 1 - internal organization data 2017-05-19
Record 1, English
Record 1, Subject field(s)
- Human Diseases - Various
- Genetics
Record 1, Main entry term, English
- Crouzon syndrome
1, record 1, English, Crouzon%20syndrome
correct
Record 1, Abbreviations, English
Record 1, Synonyms, English
- craniofacial dysostosis 2, record 1, English, craniofacial%20dysostosis
correct
Record 1, Textual support, English
Record number: 1, Textual support number: 1 DEF
An autosomal-dominant phenotype of ossified cartilages and various anomalies of the face, particularly protruding eyeballs. 1, record 1, English, - Crouzon%20syndrome
Record 1, French
Record 1, Domaine(s)
- Maladies humaines diverses
- Génétique
Record 1, Main entry term, French
- syndrome de Crouzon
1, record 1, French, syndrome%20de%20Crouzon
correct, masculine noun
Record 1, Abbreviations, French
Record 1, Synonyms, French
Record 1, Textual support, French
Record number: 1, Textual support number: 1 CONT
Le syndrome de Crouzon se caractérise par une acrocéphalie(malformation du crâne qui est allongé vers le haut) avec un front haut et une bosse frontale médiane. Y sont associées une exophtalmie(retrait anormal de l'œil à l'extérieur de son orbite) majeure, un hypertélorisme(augmentation anormale de l'espace entre les yeux) ainsi qu'un strabisme(défaut de parallélisme des axes optiques) divergent. 1, record 1, French, - syndrome%20de%20Crouzon
Record 1, Spanish
Record 1, Campo(s) temático(s)
- Enfermedades humanas varias
- Genética
Record 1, Main entry term, Spanish
- síndrome de Crouzon
1, record 1, Spanish, s%C3%ADndrome%20de%20Crouzon
correct, masculine noun
Record 1, Abbreviations, Spanish
Record 1, Synonyms, Spanish
Record 1, Textual support, Spanish
Record number: 1, Textual support number: 1 DEF
Malformación craneofacial asociada al cierre prematuro de las suturas craneales, [presenta] acortamiento del cráneo y abombamiento en su parte anterior, [es una] enfermedad hereditaria autosómica dominante, por mutación en el brazo corto del cromosoma 10 que origina la alteración del receptor. 1, record 1, Spanish, - s%C3%ADndrome%20de%20Crouzon
Record 2 - internal organization data 2017-05-12
Record 2, English
Record 2, Subject field(s)
- Genetics
Record 2, Main entry term, English
- hypotelorism 1, record 2, English, hypotelorism
Record 2, Abbreviations, English
Record 2, Synonyms, English
Record 2, Textual support, English
Record number: 2, Textual support number: 1 DEF
Abnormally decreased distance between two organs or parts. 1, record 2, English, - hypotelorism
Record number: 2, Textual support number: 1 CONT
(13 Trisomy syndrome) Abnormalities found in less than 50% of patients. Eyes: Shallow supraorbital ridges, slanting palpebral fissures, absent eyebrows, hypotelorism, hypertelorism, anophthalmos. 1, record 2, English, - hypotelorism
Record number: 2, Textual support number: 1 OBS
The word seems to be used in a more general context. Indeed the word "ocular (or orbital) hypotelorism" is used to describe the abnormal decrease in the intraorbital distance, which is consistently present in trigonocephaly. 1, record 2, English, - hypotelorism
Record 2, French
Record 2, Domaine(s)
- Génétique
Record 2, Main entry term, French
- hypotélorisme
1, record 2, French, hypot%C3%A9lorisme
masculine noun
Record 2, Abbreviations, French
Record 2, Synonyms, French
Record 2, Textual support, French
Record number: 2, Textual support number: 1 DEF
Malformation entraînant une diminution de l’espace inter-oculaire. 1, record 2, French, - hypot%C3%A9lorisme
Record number: 2, Textual support number: 1 CONT
[...] il doit exister la longueur d’un œil entre les deux yeux. Il y a hypertélorisme ou hypotélorisme si l'écart intercaronculaire interne est supérieur ou inférieur à la normale. 1, record 2, French, - hypot%C3%A9lorisme
Record number: 2, Textual support number: 1 OBS
Le mot se rapporte uniquement à une malformation crânio-faciale causant un rapprochement anormal des yeux. 1, record 2, French, - hypot%C3%A9lorisme
Record 2, Spanish
Record 2, Textual support, Spanish
Record 3 - internal organization data 2012-07-05
Record 3, English
Record 3, Subject field(s)
- Genetics
- Visual Disorders
Record 3, Main entry term, English
- ocular hypertelorism
1, record 3, English, ocular%20hypertelorism
correct
Record 3, Abbreviations, English
Record 3, Synonyms, English
- orbital hypertelorism 1, record 3, English, orbital%20hypertelorism
Record 3, Textual support, English
Record number: 3, Textual support number: 1 DEF
An abnormal increase in the intraorbital distance. 1, record 3, English, - ocular%20hypertelorism
Record 3, French
Record 3, Domaine(s)
- Génétique
- Troubles de la vision
Record 3, Main entry term, French
- hypertélorisme oculaire
1, record 3, French, hypert%C3%A9lorisme%20oculaire
correct, masculine noun
Record 3, Abbreviations, French
Record 3, Synonyms, French
Record 3, Textual support, French
Record number: 3, Textual support number: 1 DEF
Élargissement anormal de l’espace interoculaire, d’origine congénitale ou acquise. 2, record 3, French, - hypert%C3%A9lorisme%20oculaire
Record number: 3, Textual support number: 1 CONT
Dysmorphie crâniofaciale : l'hypertélorisme, l'épicanthus, le prognathisme, le strabisme sont signalés dans le mosaïcisme où prédomine la lignée XXXXY et très rares dans les observations où prédomine la lignée XXXY. 2, record 3, French, - hypert%C3%A9lorisme%20oculaire
Record 3, Spanish
Record 3, Campo(s) temático(s)
- Genética
- Trastornos de la visión
Record 3, Main entry term, Spanish
- hipertelorismo ocular
1, record 3, Spanish, hipertelorismo%20ocular
correct, masculine noun
Record 3, Abbreviations, Spanish
Record 3, Synonyms, Spanish
- hipertelorismo orbitario 1, record 3, Spanish, hipertelorismo%20orbitario
correct, masculine noun
Record 3, Textual support, Spanish
Record number: 3, Textual support number: 1 DEF
Aumento de la distancia interorbitaria generalmente en asociación con disostosis cleidocraneal o craneofacial y posible déficit mental. 1, record 3, Spanish, - hipertelorismo%20ocular
Record 4 - internal organization data 2011-03-22
Record 4, English
Record 4, Subject field(s)
- Genetics
Record 4, Main entry term, English
- mongoloid obliquity of the palpebral clefts 1, record 4, English, mongoloid%20obliquity%20of%20the%20palpebral%20clefts
Record 4, Abbreviations, English
Record 4, Synonyms, English
- mongoloid slanting palpebral fissure 1, record 4, English, mongoloid%20slanting%20palpebral%20fissure
Record 4, Textual support, English
Record number: 4, Textual support number: 1 DEF
Palpebral clefts situated obliquely and turned upwards and outwards. 1, record 4, English, - mongoloid%20obliquity%20of%20the%20palpebral%20clefts
Record 4, French
Record 4, Domaine(s)
- Génétique
Record 4, Main entry term, French
- obliquité mongoloïde des fentes palpébrales
1, record 4, French, obliquit%C3%A9%20mongolo%C3%AFde%20des%20fentes%20palp%C3%A9brales
feminine noun
Record 4, Abbreviations, French
Record 4, Synonyms, French
- obliquité palpébrale mongoloïde 1, record 4, French, obliquit%C3%A9%20palp%C3%A9brale%20mongolo%C3%AFde
feminine noun
Record 4, Textual support, French
Record number: 4, Textual support number: 1 DEF
Fentes palpébrales dirigées obliquement vers le haut et le dehors. 1, record 4, French, - obliquit%C3%A9%20mongolo%C3%AFde%20des%20fentes%20palp%C3%A9brales
Record number: 4, Textual support number: 1 CONT
(Le phénotype XXXXY) Le signe le plus fidèle est la microcéphalie, s’accompagnant de stigmates malformatifs du visage : l'hypertélorisme(92% des cas), souvent associé à l'épicanthus, l'obliquité mongoloïde des fentes palpébrales(33% des cas), etc. 1, record 4, French, - obliquit%C3%A9%20mongolo%C3%AFde%20des%20fentes%20palp%C3%A9brales
Record 4, Spanish
Record 4, Textual support, Spanish
Record 5 - internal organization data 2000-05-15
Record 5, English
Record 5, Subject field(s)
- The Eye
- Musculoskeletal System
Record 5, Main entry term, English
- ocular hypertelorism
1, record 5, English, ocular%20hypertelorism
correct
Record 5, Abbreviations, English
Record 5, Synonyms, English
- orbital hypertelorism 2, record 5, English, orbital%20hypertelorism
correct
- hypertelorism 3, record 5, English, hypertelorism
correct
Record 5, Textual support, English
Record number: 5, Textual support number: 1 DEF
A condition characterized by abnormal increase in the interorbital distance, often associated with cleidocranial or craniofacial dysostosis, and occasionally accompanied by mental deficiency. 1, record 5, English, - ocular%20hypertelorism
Record number: 5, Textual support number: 2 DEF
Abnormal width between two paired organs, especially the eyes. 4, record 5, English, - ocular%20hypertelorism
Record 5, French
Record 5, Domaine(s)
- Oeil
- Appareil locomoteur (Médecine)
Record 5, Main entry term, French
- hypertélorisme oculaire
1, record 5, French, hypert%C3%A9lorisme%20oculaire
correct, masculine noun
Record 5, Abbreviations, French
Record 5, Synonyms, French
- hypertélorisme 1, record 5, French, hypert%C3%A9lorisme
correct, see observation, masculine noun
Record 5, Textual support, French
Record number: 5, Textual support number: 1 DEF
Élargissement anormal de l’espace interoculaire, d’origine congénitale ou acquise. 1, record 5, French, - hypert%C3%A9lorisme%20oculaire
Record number: 5, Textual support number: 1 OBS
Stricto sensu, le terme hypertélorisme désigne un accroissement anormal de l'intervalle séparant deux organes pairs quels qu'ils soient. Ce n’ est que par abus de langage qu'il est devenu synonyme d’hypertélorisme oculaire. 1, record 5, French, - hypert%C3%A9lorisme%20oculaire
Record 5, Spanish
Record 5, Campo(s) temático(s)
- Ojo
- Sistema musculoesquelético (Medicina)
Record 5, Main entry term, Spanish
- hipertelorismo ocular
1, record 5, Spanish, hipertelorismo%20ocular
correct, masculine noun
Record 5, Abbreviations, Spanish
Record 5, Synonyms, Spanish
- hipertelorismo 1, record 5, Spanish, hipertelorismo
correct, masculine noun
Record 5, Textual support, Spanish
Record 6 - internal organization data 1990-06-21
Record 6, English
Record 6, Subject field(s)
- Symptoms (Medicine)
- Musculoskeletal System
Record 6, Main entry term, English
- leprechaunism
1, record 6, English, leprechaunism
correct
Record 6, Abbreviations, English
Record 6, Synonyms, English
- Donohue's syndrome 2, record 6, English, Donohue%27s%20syndrome
correct
Record 6, Textual support, English
Record number: 6, Textual support number: 1 DEF
An exceedingly rare and lethal familial condition marked by slow development both physically and mentally, by elfin facies (wide-set eyes and low-set ears, with hirsutism), as suggested by the name, and by severe endocrine disorders, as indicated by enlargement of the clitoris and breasts in females and of the phallus in males. 1, record 6, English, - leprechaunism
Record 6, French
Record 6, Domaine(s)
- Symptômes (Médecine)
- Appareil locomoteur (Médecine)
Record 6, Main entry term, French
- lepréchaunisme
1, record 6, French, lepr%C3%A9chaunisme
correct, masculine noun
Record 6, Abbreviations, French
Record 6, Synonyms, French
- syndrome de Donohue 2, record 6, French, syndrome%20de%20Donohue
correct, masculine noun
- nanisme à tête de gnome 2, record 6, French, nanisme%20%C3%A0%20t%C3%AAte%20de%20gnome
correct, masculine noun
Record 6, Textual support, French
Record number: 6, Textual support number: 1 DEF
Variété de nanisme essentiel associant une dysmorphie caractéristique("faciès de gnome" : aspect de vieillard, nez épaté et retroussé, hypertélorisme, proéminence des arcades orbitaires, implantation basse des oreilles, macroglossie), une cachexie extrême, un retard mental, un hirsutisme, parfois une hypertrophie des mamelons et des organes génitaux externes, une hypoglycémie et des calcifications viscérales. La nature génétique de l'affection est probable, mais non élucidée. 1, record 6, French, - lepr%C3%A9chaunisme
Record 6, Spanish
Record 6, Campo(s) temático(s)
- Síntomas (Medicina)
- Sistema musculoesquelético (Medicina)
Record 6, Main entry term, Spanish
- leprechaunismo
1, record 6, Spanish, leprechaunismo
correct, masculine noun
Record 6, Abbreviations, Spanish
Record 6, Synonyms, Spanish
- síndrome de Donohue 1, record 6, Spanish, s%C3%ADndrome%20de%20Donohue
correct, masculine noun
Record 6, Textual support, Spanish
Record 7 - internal organization data 1985-11-05
Record 7, English
Record 7, Subject field(s)
- Genetics
Record 7, Main entry term, English
- flattened root of the nose
1, record 7, English, flattened%20root%20of%20the%20nose
correct
Record 7, Abbreviations, English
Record 7, Synonyms, English
Record 7, Textual support, English
Record number: 7, Textual support number: 1 DEF
Broad ans slightly high root of the nose (that is to say the highest part of the nose). 1, record 7, English, - flattened%20root%20of%20the%20nose
Record 7, French
Record 7, Domaine(s)
- Génétique
Record 7, Main entry term, French
- aplatissement de la racine du nez
1, record 7, French, aplatissement%20de%20la%20racine%20du%20nez
correct, masculine noun
Record 7, Abbreviations, French
Record 7, Synonyms, French
Record 7, Textual support, French
Record number: 7, Textual support number: 1 DEF
Racine du nez (c’est-à-dire la partie la plus élevée du nez) large et peu élevée. (FREUND) 1, record 7, French, - aplatissement%20de%20la%20racine%20du%20nez
Record number: 7, Textual support number: 1 CONT
(Syndrome XXXX) Le visage est large et arrondi, dû à la présence d’hypertélorisme associé à l'aplatissement de la racine du nez avec ou sans épicanthus.(ESSE Vol. 12, 4, 1975, p. 1) 1, record 7, French, - aplatissement%20de%20la%20racine%20du%20nez
Record 7, Spanish
Record 7, Textual support, Spanish
Record 8 - internal organization data 1981-04-21
Record 8, English
Record 8, Subject field(s)
- Histology
Record 8, Main entry term, English
- cri du chat syndrome 1, record 8, English, cri%20du%20chat%20syndrome
Record 8, Abbreviations, English
Record 8, Synonyms, English
- cat cry syndrome 1, record 8, English, cat%20cry%20syndrome
- crying cat syndrome 1, record 8, English, crying%20cat%20syndrome
- deletion of short arm of chromosome 5 1, record 8, English, deletion%20of%20short%20arm%20of%20chromosome%205
- B1 deletion syndrome 1, record 8, English, B1%20deletion%20syndrome
Record 8, Textual support, English
Record number: 8, Textual support number: 1 DEF
A hereditary congenital syndrome characterized by hypertelorism, microcephaly, severe mental deficiency, and a plaintive catlike cry, due to deletion of the short arm of a chromosome (4 or 5) of the B group. 1, record 8, English, - cri%20du%20chat%20syndrome
Record number: 8, Textual support number: 1 CONT
Deletions of the short arms of both the early and late replicating pair have been reported, and evidence suggests that the cri du chat syndrome ... results from a substantial deficiency of genetic material in the short arms of the shorter early-replicating chromosome pair (No 5). 1, record 8, English, - cri%20du%20chat%20syndrome
Record 8, French
Record 8, Domaine(s)
- Histologie
Record 8, Main entry term, French
- syndrome du cri du chat
1, record 8, French, syndrome%20du%20cri%20du%20chat
masculine noun
Record 8, Abbreviations, French
Record 8, Synonyms, French
- syndrome de Lejeune 1, record 8, French, syndrome%20de%20Lejeune
see observation, masculine noun
Record 8, Textual support, French
Record number: 8, Textual support number: 1 DEF
Syndrome décrit chez le nourrisson [...] et caractérisé par : 1) des anomalies morphologiques comprenant une microcéphalie, un hypertélorisme avec épicanthus, une implantation basse des oreille, un micro-et un rétrognathisme; 2) une arriération mentale profonde; 3) une consonance particulière du cri comparable au cri du chat; 4) des anomalies dermatoglyphiques à savoir un triradius palmaire en position t’ et un équivalent du pli palmaire transverse unique; 5) une aberration chromosomique caractérisée par une amputation de la moitié environ des bras courts d’un chromosome 4-5. 1, record 8, French, - syndrome%20du%20cri%20du%20chat
Record number: 8, Textual support number: 1 CONT
Ce symptôme est tellement typique pour le tableau pathologique, que Lejeune et Coll. ont préconisé la dénomination assez triviale de «syndrome du cri du chat». 1, record 8, French, - syndrome%20du%20cri%20du%20chat
Record number: 8, Textual support number: 1 OBS
«syndrome de Lejeune» : Syndrome (plurimalformatif) de Lejeune 1, record 8, French, - syndrome%20du%20cri%20du%20chat
Record 8, Key term(s)
- syndrome plurimalformatif de Lejeune
Record 8, Spanish
Record 8, Textual support, Spanish
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