Citation, DOI & article data
Hypertelorism refers to an abnormal increase in distance between any two organs although some authors use the term synonymously with orbital hypertelorism meaning an abnormal increase in distance between the two eyes. The article mainly focuses on the latter. The abnormality is similar to telecanthus which means an increased distance between the medial canthi of the eyelids.
While it can be an isolated anomaly, there are numerous syndromic as well as non-syndromic associations with orbital hypertelorism which include:
- aneuploidic syndromic
- Aarskog syndrome
- Apert syndrome 1
- Baraitser-Winter syndrome 8
- Crouzon syndrome 1
- DiGeorge syndrome
- Ehlers-Danlos syndrome
- frontonasal dysplasia
- Greig syndrome
- Gorlin syndrome
- LEOPARD syndrome
- Loeys-Dietz syndrome (LDS) 2
- Neu-Laxova syndrome (NLS)
- Noonan syndrome 5
- Pfeiffer syndrome
- Saethre-Chotzen syndrome 6
- Sotos syndrome
- Weaver syndrome
- Wolf-Hirschhorn syndrome
There are many more associations other than those mentioned on this list. Please add and/or reference as appropriate.
Over development of the lesser wings of the sphenoid bone may be an underlying factor.
Hypertelorism may be assessed by measuring the distance between the lateral orbital walls or the medial orbital walls. The interocular distance/diameter (IOD) and the biocular diameter (BOD) are both typically increased with hypertelorism.
Due to its associations with other conditions, detailed sonographic surveillance for other fetal anomalies is recommended if hypertelorism is seen on ultrasound.
Some indices used include:
- orbital angle index: a value >42 is suggestive of orbital hypertelorism
- interorbital-orbital index: a value >8 is suggestive of orbital hypertelorism
- 1. Kreiborg S, Cohen MM. Ocular manifestations of Apert and Crouzon syndromes: qualitative and quantitative findings. J Craniofac Surg. 2010;21 (5): 1354-7. doi:10.1097/SCS.0b013e3181ef2b53 - Pubmed citation
- 2. Rodrigues VJ, Elsayed S, Loeys BL et-al. Neuroradiologic manifestations of Loeys-Dietz syndrome type 1. AJNR Am J Neuroradiol. 2009;30 (8): 1614-9. doi:10.3174/ajnr.A1651 - Pubmed citation
- 3. Stevens CA, Wilroy RS. The telecanthus-hypospadias syndrome. J. Med. Genet. 1988;25 (8): 536-42. J. Med. Genet. (link) - Free text at pubmed - Pubmed citation
- 4. Black M, Chatrath P, Jan W et-al. Case of the month. Eyes wide apart! Br J Radiol. 2001;74 (877): 103-4. Br J Radiol (full text) - Pubmed citation
- 5. Rohrer T. Noonan syndrome: introduction and basic clinical features. Horm. Res. 2009;72 Suppl 2 : 3-7. doi:10.1159/000243772 - Pubmed citation
- 6. Peña WA, Slavotinek A, Oberoi S. Saethre-Chotzen syndrome: a case report. Cleft Palate Craniofac. J. 2010;47 (3): 318-21. doi:10.1597/07-202 - Pubmed citation
- 7. Elster AD, Theros EG, Key LL et-al. Cranial imaging in autosomal recessive osteopetrosis. Part I. Facial bones and calvarium. Radiology. 1992;183 (1): 129-35. Radiology (abstract) - Pubmed citation
- 8. Shiihara T, Maruyama K, Yamada Y, Nishimura A, Matsumoto N, Kato M, Sakazume S. A case of Baraitser-Winter syndrome with unusual brain MRI findings: pachygyria, subcortical-band heterotopia, and periventricular heterotopia. (2010) Brain & development. 32 (6): 502-5. https://doi.org/10.1016/j.braindev.2009.04.015