Hypotelorism refers to an abnormal decrease in distance between any two organs although some authors use the term synonymously with orbital hypotelorism meaning an abnormal decrease in the distance between the two eyes (the eyes appear too close together). The article mainly focuses on the latter.
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Pathology
Associations
The majority of cases of orbital hypotelorism are associated with other anomalies. Such recognised associations include:
- aneuploidic syndromic
-
non-aneuploidic syndromic
- holoprosencephaly (most commonly associated abnormality 4)
- Freeman Sheldon syndrome
- Meckel-Gruber syndrome 5
- non-syndromic
Radiographic features
Can be assessed by measuring the interocular distance/diameter (IOD) and the binocular diameter (BOD) both of which are typically reduced with hypotelorism. These are best measured in the axial plane.
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