hypertelorism
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.
Pathology
Over development of the lesser wings of the sphenoid bone may be an underlying factor.
Associations
While it can as an isolated anomaly, there are numerous syndromic as well as non syndromic associations with orbital hypertelorism which include:
- aneuploidic syndromic
- non aneuploidic syndromic
- Aarskog syndrome
- Apert syndrome
- Crouzon syndrome
- DiGeorge syndrome
- Ehlers-Danlos syndrome
- frontonasal dysplasia
- Greig syndrome
- Gorlin syndrome
- LEOPARD syndrome
- Loeys-Dietz syndrome (LDS)
- mucopolysaccharidoses
- Neu-Laxova syndrome (NLS)
- Noonan syndrome
- Saethre-Chotzen syndrome
- Sotos syndrome
- Weaver syndrome
- Wolf-Hirschhorn syndrome
- non syndromic
- agenesis of the corpus callosum
- autosomal recessive osteopetrosis
- congenital dacrocystocoeles
- hypospadia(s)
- naso ethmoidal encephalocoele/frontal encephalocoele
There are many more associations other than those mentioned on this list. Please add and/or reference as appropriate.
Radiographic assessment
Antenatal ultrasound
It is can 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 greater than 42 is suggestive of orbital hypertelorism
- interorbital-orbital index: a value greater than 8 is suggestive of orbital hypertelorism
See also
Siehe auch:
- Pätau-Syndrom
- Ehlers-Danlos syndrome
- Down-Syndrom
- Gorlin-Goltz-Syndrom
- Turner-Syndrom
- Apert-Syndrom
- Mukopolysaccharidose
- Crouzon-Syndrom
- Hypospadie
- Loeys-Dietz-Syndrom
- Noonan-Syndrom
- Hypotelorismus
- Mikrodeletionsyndrom 22q11
- juvenile maligne Osteopetrose
- Aarskog-Syndrom
- Frontonasale Dysplasie
- Hypertelorismus vom Typ Teebi
- Neu-Laxova-Syndrom
- Greig-Syndrom
- Hypertelorismus-Hypospadie-Syndrom
- Mukopolysaccharidose Typ IV
- interoculare Distanz
- LEOPARD syndrome
- Wolf-Hirschhorn-Syndrom
- Sotos-Syndrom
- Dysgenesie des Corpus callosum
- Weaver-Syndrom
- familiärer Hypertelorismus Greig
und weiter:
Assoziationen und Differentialdiagnosen zu Euryopie:
