Hypertelorism
| Hypertelorism | |
|---|---|
| Other names | Ocular hypertelorism,[1] orbital hypertelorism,[1] hypertelorbitism[2] |
| Hypertelorism as seen in craniofrontonasal dysplasia | |
| Specialty | Medical genetics |
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, frontonasal dysplasia, Noonan syndrome, neurofibromatosis,[4] LEOPARD syndrome, Pfeiffer Syndrome, Jacobsen 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.
- ^ a b "ocular hypertelorism, orbital hypertelorism". TheFreeDictionary.com. Retrieved 2020-01-08.
- ^ Weinzweig, Jeffrey (2010-04-13). Plastic Surgery Secrets Plus E-Book. Elsevier Health Sciences. p. 331. ISBN 978-0-323-08590-8.
- ^ Michael L. Bentz: Pediatric Plastic Surgery; Chapter 9 Hypertelorism by Renato Ocampo, Jr., MD/ John A. Persing, MD
- ^ 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.