Skip to Main Content

++
KEY POINTS
++

Key Points

  • Defined as an increased distance between inner and outer canthi.

  • Prenatal sonographic measurements are obtained from either the outer-to-outer or inner-to-inner bony orbital margins.

  • Unknown incidence but rare.

  • Main concern is its association with median facial and/or brain defects as well as syndromes.

  • Offer karyotype and FISH analysis for 22q11.2 deletion (associated with autosomal dominant form of Opitz syndrome).

  • Prognosis depends on severity of associated anomalies and/or if a syndrome is present.

  • DNA analysis is available for a number of the single-gene disorders associated with hypertelorism.

++
CONDITION
++

Hypertelorism is a condition in which a larger-than-average distance exists between the orbits. The distances between the medial canthi and pupils are also increased (Kirkham et al., 1975). The term was first used by Greig in 1924, who described hypertelorism as a “great breadth between the eyes.” The orbits represent a bridge between the face and the cranium. Seven different bones are required to form the orbit (frontal, zygomatic, sphenoid, ethmoidal, maxillary, lacrimal, and palatine) (Dollfus and Verloes, 2004).

++

Ocular hypertelorism is defined as an increased distance between the medial orbital walls. This can be demonstrated either radiographically or clinically by an increased interpupillary distance. If the interpupillary distance is greater than 2 SD above the mean for the patient’s age, hypertelorism is said to exist (Brodsky et al., 1990). More recently, it has been recommended that the diagnosis of hypertelorism be made radiographically by interorbital measurements. The difficulty with using intercanthal distance to define hypertelorism is that soft tissue changes of the face can increase the inter-canthal distance without affecting the interorbital distance (Trout et al., 1994). Telecanthus is an increased distance between the inner canthi. This can either be primary, defined as an increase in soft tissue with normal interpupillary and interbony distance, or secondary, which is really orbital hypertelorism, with an increased interbony or interpupillary distance (Murphy and Laskin, 1990). The major concern regarding the fetal finding of hypertelorism is its association with median facial and brain defects, such as encephalocele, facial cleft, and craniosynostosis.

++
INCIDENCE
++

Hypertelorism is rare. Its exact incidence is unknown. Hypertelorism may occur as an isolated condition or in association with other anomalies.

++
SONOGRAPHIC FINDINGS
++

Imaging of the fetal orbits and measurements of the interorbital distance are not routinely performed in most centers that offer targeted fetal sonographic studies. Measurement of the fetal interorbital distance is not included in either the American Institute of Ultrasound in Medicine (AIUM) or American College of Obstetrics and Gynecology (ACOG) guidelines for obstetrical sonography (American College of Obstetrics and Gynecology, 2008). Fetal orbital measurements should be performed in any pregnant woman known to have had a previously affected child with a condition associated with hypertelorism, such as Waardenburg, Opitz or Noonan syndromes. Detection ...

Want remote access to your institution's subscription?

Sign in to your MyAccess profile while you are actively authenticated on this site via your institution (you will be able to verify this by looking at the top right corner of the screen - if you see your institution's name, you are authenticated). Once logged in to your MyAccess profile, you will be able to access your institution's subscription for 90 days from any location. You must be logged in while authenticated at least once every 90 days to maintain this remote access.

Ok

Create a Free MyAccess Profile

* Required Fields

Note: If you have registered for a MyAccess profile on any of the Access sites, you can use the same MyAccess login credentials across all sites.

Passwords must be between 6 and 40 characters long (no whitespace), cannot contain characters #, &, and must contain:
  • at least one lowercase letter
  • at least one uppercase letter
  • at least one digit

Benefits of a MyAccess Profile:

  • Remote access to the site off-campus on any device
  • Notification of new content via custom alerts
  • Bookmark your favorite content such as chapters, figures, tables, videos, cases and more
  • Save and download images to PowerPoint
  • Self-Assessment quizzes saved for quick review
  • Custom Curriculum access for both instructors and learners

Pop-up div Successfully Displayed

This div only appears when the trigger link is hovered over. Otherwise it is hidden from view.