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Hypertelorism information


Hypertelorism
Other namesOcular hypertelorism,[1] orbital hypertelorism,[1] hypertelorbitism[2]
Hypertelorism as seen in craniofrontonasal dysplasia
SpecialtyMedical genetics Edit this on Wikidata

Hypertelorism is an abnormally increased distance between two organs or bodily parts, usually referring to an increased distance between the orbits (eyes), or orbital hypertelorism. In this condition the distance between the inner eye corners as well as the distance between the pupils is greater than normal. Hypertelorism should not be confused with telecanthus, in which the distance between the inner eye corners is increased but the distances between the outer eye corners and the pupils remain unchanged.[3]

Hypertelorism is a symptom in a variety of syndromes, including Edwards syndrome (trisomy 18), 1q21.1 duplication syndrome, basal cell nevus syndrome, DiGeorge syndrome and Loeys–Dietz syndrome. Hypertelorism can also be seen in Apert syndrome, Autism spectrum disorder, craniofrontonasal dysplasia, Noonan syndrome, neurofibromatosis,[4] LEOPARD syndrome, Crouzon syndrome, Wolf–Hirschhorn syndrome, Andersen–Tawil syndrome, Waardenburg syndrome and cri du chat syndrome, along with piebaldism, prominent inner third of the eyebrows, irises of different color, spondyloepiphyseal dysplasia, mucopolysaccharide metabolism disorders (Morquio syndrome and Hurler's syndrome), deafness and also in hypothyroidism. Some links have been found between hypertelorism and attention deficit hyperactivity disorder.

  1. ^ a b "ocular hypertelorism, orbital hypertelorism". TheFreeDictionary.com. Retrieved 2020-01-08.
  2. ^ Weinzweig, Jeffrey (2010-04-13). Plastic Surgery Secrets Plus E-Book. Elsevier Health Sciences. p. 331. ISBN 978-0-323-08590-8.
  3. ^ Michael L. Bentz: Pediatric Plastic Surgery; Chapter 9 Hypertelorism by Renato Ocampo, Jr., MD/ John A. Persing, MD
  4. ^ Mautner, V (June 2010). "Clinical characterisation of 29 neurofibromatosis type-1 patients with molecularly ascertained 1.4 Mb type-1 NF1 deletions" (PDF). Journal of Medical Genetics. 47 (9): 623–630. doi:10.1136/jmg.2009.075937. PMID 20543202. S2CID 5781561.

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Hypertelorism

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Some links have been found between hypertelorism and attention deficit hyperactivity disorder. Because hypertelorism is an anatomic condition associated...

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Telecanthus

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This is in contrast to hypertelorism, in which the distance between the whole eyes is increased. Telecanthus and hypertelorism are each associated with...

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Frontonasal dysplasia

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they often present with hypertelorism and normal brain development. Mental retardation is more likely when the hypertelorism is more severe or when extracephalic...

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Cri du chat syndrome

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small head (microcephaly) and jaw (micrognathism); widely-spaced eyes (hypertelorism); skin tags in front of ears. Other common findings include hypotonia...

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KBG syndrome

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(synophrys) Prominent nasal bridge Thin upper lip Widely spaced eyebrows (hypertelorism) A longer space between the bridge of the nose and upper lip (long philtrum)...

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Craniofacial cleft

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a duplication of the labial frenulum. Besides the median cleft lip, hypertelorism can be seen in these clefts. Also sometimes there can be an underdevelopment...

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Cleidocranial dysostosis

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Bossing (bulging) of the forehead. Open skull sutures, large fontanelles. Hypertelorism. Delayed ossification of bones forming symphysis pubis, producing a...

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Hypotelorism

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during skull development in children, can also cause hypotelorism. Hypertelorism "Hypotelorism". Medical Dictionary. TheFreeDictionary.com. Retrieved...

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Triangular face

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constellation of a hypoplastic face with prominent zygomatic arches, orbital hypertelorism, sunken cheeks, down-turned mouth, and occasionally brownish facial...

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Phocomelia

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and the eyes may be set widely apart, a condition known as orbital hypertelorism. The pigment of the eyes will be a bluish white. Phocomelia can also...

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Trisomy 18

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narrow eyelid openings (blepharophimosis), widely spaced eyes (ocular hypertelorism), drooping of the upper eyelids (ptosis), a short breast bone, clenched...

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Trisomy X

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symptoms can have learning disabilities, mild dysmorphic features such as hypertelorism (wide-spaced eyes) and clinodactyly (incurved little fingers), early...

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Craniofrontonasal dysplasia

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malformations are: craniosynostosis of the coronal suture(s), orbital hypertelorism, bifid nasal tip, dry frizzy curled hair, longitudinal ridging and/or...

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DiGeorge syndrome

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arch, truncus arteriosus and tetralogy of Fallot) Abnormal facies (Hypertelorism, short down slanting palpebral fissures, tubular nose with anteverted...

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XXYY syndrome

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otitis media Elbow dislocation Epicanthus Flat occiput Gynecomastia Hypertelorism Low muscle tone Joint hyperflexibility Obesity Open bite Flat feet Radioulnar...

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Tetrasomy X

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Epicanthic folds (additional skin folds in the corners of the eyes) and hypertelorism (wide-spaced eyes) are frequent facial features. Multiple reports have...

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XXXXY syndrome

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joints Short stature Narrow shoulders Coarse features in older age Hypertelorism Epicanthal folds Prognathism Gynecomastia (rare) Muscular hypotonia...

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Dysmorphic feature

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clinical features are general. A male child with short stature and hypertelorism could have several different disorders, as these findings are not highly...

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Sotos syndrome

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slightly protrusive forehead, large hands and feet, large mandible, hypertelorism (an abnormally increased distance between the eyes), and downslanting...

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Noonan syndrome

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face shape, broad forehead, and a short, webbed neck. In the eyes, hypertelorism (widely set eyes) is a defining characteristic, present in 95% of people...

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Crouzon syndrome

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due to shallow eye sockets after early fusion of surrounding bones), hypertelorism (greater than normal distance between the eyes), and psittichorhina...

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Pentasomy X

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facial features. Common findings include microcephaly, low-set ears, hypertelorism (wide-spaced eyes), and epicanthic folds. The characteristic facies...

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10q26 deletion

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and mental retardation, microcephaly, triangular face, strabismus, hypertelorism, prominent nasal bridge, beaked or prominent nose, low-set dysplastic...

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Pfeiffer syndrome

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(turribrachycephaly) and eyes that appear to bulge (proptosis) and are set wide (hypertelorism). In addition, there is an underdeveloped upper jaw (maxillary hypoplasia)...

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