Hypertelorism

What is hypertelorism?

Hypertelorism, or ocular hypertelorism, gives the face a characteristic appearance, with the eyes and pupils farther apart than normal. Usually it is of cause congenital and appears due to a excessive bone tissue formation on the inner walls of the orbits while the development of the cranial sphenoid bone is arrested. In short, in ocular hypertelorism all the structures of the eye socket move towards the edges of the face.

Not to be confused hypertelorism with telecanto. This is also a congenital malformation characterized by a increased space between both eyes, but with a normal pupil distance which is due to excess frontonasal soft tissues.

The opposite sign to hypertelorism would be ocular hypotelorism. This represents a decreased distance between eye orbits. Its extreme degree results in cyclopia or fusion of both eyes into one.

How does it manifest?

 Hypertelorism is a malformation which can manifest in isolation or you can be associated with phenomena such as craniosynostosis (early fusion of the cranial bones), craniofacial fissures and meningocele or encephalocele (malformations) so it is a sign that can be present in many dysmorphic syndromes. It is common for patients who suffer from it to associate or (lazy eye). Some of these syndromes are as follows:

• Alagille syndrome: genetic disease due to the existence of a mutation in chromosome 20, in which the liver (malformed and narrow bile ducts) and the heart are mainly affected. They present facial alterations such as a broad forehead, pointed chin, and hypertelorism, among other defects.
• Crouzon syndrome: In this syndrome (involving chromosome 10), the orbits are very shallow as a result of growth arrest of the maxillary and zygomatic bones. This results in a “parrot-beak” nose, ocular proptosis or exophthalmia (excessive exteriorization of the eyes), squint, slimming optic nerve and hypertelorism. In these cases, mental retardation is rare.
• Cri du Chat syndrome”: Alteration of 5 characterized by a crying in the patient that resembles the meow of a cat, microcephaly (small skull), intellectual disability and facial abnormalities.
• Leopard syndrome: genetic defect located on chromosome 12. The main clinical manifestations of the syndrome are: skin spots, cardiac electrical conduction abnormalities, narrowing of the pulmonary artery, malformative defects in the genitals, growth retardation Y deafness.
• Apert syndrome: it is a syndrome characterized by early closure of cranial sutures, fused fingers and toes Y alterations of the facial midline, among which is the hypertelorism. They may associate low or normal IQ. It is due to a mutation on chromosome 10.
• DiGeorge syndrome: it is a non-hereditary congenital anomaly due to the loss of a small part of chromosome 22, which is characterized by presenting an immunodeficiency due to poor development of the thymus,, low pinna implantation, small and retracted jaw, hypertelorism, etc.

Among many other examples ...

Diagnosis and treatment

 In addition to the simple clinical observation of the sign in the physical examination of the patient, it is optimally studied by means of performing a CT Three-dimensional (scanner), measuring the distance between the two medial or inner walls of the orbit. Teladoc Consultant Physician