What Is Hypertelorism?

Hypertelorism generally occurs during the first 4 to 8 weeks of an embryo’s development. Sometimes it can show up on a prenatal ultrasound. Doctors often diagnose it shortly after birth.

In an embryo’s typical development, the orbits form far apart and then move closer together as the structures of the face and skull mature. If something interrupts this process, such as the bones fusing together too early or in the wrong spot, the orbits can’t move into their proper position.

Many factors can interrupt a baby’s development. Some of the risks for developmental issues for a fetus include:

• genetic disorders
• infections
• drug or alcohol consumption
• smoking

Hundreds of genetic disorders can lead to hypertelorism, including:

• Apert syndrome
• Bohring-Opitz syndrome
• cri-du-chat syndrome
• Crouzon syndrome
• DiGeorge syndrome
• Edwards syndrome
• Loeys-Dietz syndrome
• neurofibromatosis
• Noonan syndrome
• Pfeiffer syndrome
• skeletal dysplasia
• triploidy

Because there are so many conditions associated with hypertelorism, doctors will perform a thorough physical examination to help determine the underlying cause.

If your child has hypertelorism, doctors might use genetic testing to help narrow down the list of potential causes.

Many conditions can lead to hypertelorism. Each of these conditions can cause different symptoms. Hypertelorism does not usually cause any other symptoms on its own, though.

Although larger and newer studies are still needed, research from 2014 mentions that hypertelorism without surgery to treat it might lead to:

• negative body image
• emotional distress
• difficulty integrating with peers

A doctor will diagnose hypertelorism by taking specific measurements of your child’s face. They may use a ruler, but they can obtain more accurate measurements using diagnostic imaging such as a computed tomography (CT) scan.

Your canthus is where your upper and lower eyelids meet at the corners of your eyes. Doctors will measure your child’s inner canthal distance (ICD) and outer canthal distance (OCD), meaning the distance between the inside corners of your eyes and the distance between the outside corners of your eyes, respectively.

They’ll also measure the distance between the center of your pupils. Doctors call this the interpupillary distance (IPD).

If your child’s ICD, OCD, and IPD measurements are all above the 95th percentile compared to their peers, they meet the criteria for orbital hypertelorism. If only one or two measurements cross that threshold, they do not have orbital hypertelorism. Still, they may have a related condition, such as telecanthus.

Here are the average and 95th percentile measurements for ICD and OCD for babies:

Because hypertelorism is not a disease in itself, the first treatments will likely focus on addressing the underlying cause.

Isolated hypertelorism does not require treatment. On its own, it does not affect vision, breathing, or development. You may seek treatment for cosmetic reasons, though, which may have positive mental health effects.

To treat hypertelorism, surgery can move the orbits closer together. A doctor will usually recommend waiting until a child is between ages 5 and 7 to perform surgery. This helps to avoid problems with tooth and face development.

Doctors use two surgical techniques to treat hypertelorism.

Doctors most often recommend a box osteotomy to correct mild to moderate hypertelorism. In this procedure, a surgeon removes part of the nasal bone. They’ll then move the remaining areas between the orbits closer together.

Doctors most often perform a facial bipartition to correct severe hypertelorism. They may recommend this technique if there are also issues with your child’s mouth or teeth. In this case, they remove a triangular section of the bone above the nose and divide the roof of your mouth down the middle. They then rotate the two large areas around the orbits to correct the hypertelorism.

Isolated hypertelorism has a very good outlook, with or without corrective surgery.

Doctors consider surgery to treat hypertelorism very safe. Still, all surgeries do have risks. For either the box osteotomy or the facial bipartition surgeries, risks can include:

• bleeding
• infection
• cerebrospinal fluid (CSF) leaking
• vision loss
• blindness
• droopy eyelids
• double vision

When a condition causes hypertelorism, the outlook will depend on the condition. Some conditions can cause mild to severe intellectual disability. Others may be associated with a wide range of congenital disorders. These complications aren’t due to hypertelorism but to the underlying condition.

You’ll need to consult with a doctor to learn more about the outlook for your specific circumstances.

Because hypertelorism often results from a genetic condition, it might be possible to pass it on to your child in some cases.

If you have a family history that includes genetic conditions that can cause hypertelorism, you might consider genetic counseling. This can help you determine the risk that your child might have certain genetic conditions. It’s also possible to test babies for some genetic conditions before they’re born.

Consult a doctor to determine if genetic testing might be useful in your situation.

Hypertelorism is a developmental irregularity in which your orbits are widely-spaced. It’s a clinical feature of many different conditions.

Isolated hypertelorism doesn’t usually lead to any other physical complications. Surgery can correct it. This usually occurs between the ages of 5 and 7.

When hypertelorism results from an underlying condition, you’ll usually need to treat the other condition first.