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Ocular hypertelorism: Wideset eyes, which lead to a similar facial resemblance between patients.
Ocular hypertelorism may be present.
Correction of ocular hypertelorism.
Major physical characteristics may include widely spaced eyes (ocular hypertelorism); a flat broad nose; and/or a vertical groove down the middle of the face.
This disorder is also characterized by widely spaced eyes (ocular hypertelorism), an abnormally large head size (macrocephaly), and a high, prominent forehead.
Converse JJ, Wood-Smith D. Craniofacial surgery for ocular hypertelorism and craniofacial stenosis.
These may include marked smallness of the head (microcephaly), sloping of the forehead, widely spaced eyes (ocular hypertelorism), and other malformations, resulting in a distinctive facial appearance.
Cranial features include macrocephaly, a bulging forehead, prominent occiput, large anterior fontanel, ocular hypertelorism, depressed nasal bridge, downslanting palpebral fissures, cleft palate, and bifid uvula.
The most common characteristics include a distinct craniofacial phenotype (microcephaly, micrognathia, short philtrum, prominent glabella, ocular hypertelorism, dysplastic ears and periauricular tags), growth and mental retardation, muscle hypotonia, seizures, and congenital heart defects.
Similar mutations in c-Raf can also cause a related condition, termed LEOPARD syndrome (Lentigo, Electrocardiographic abnormalities, Ocular hypertelorism, Pulmonary stenosis, Abnormal genitalia, Retarded growth, Deafness), with a complex association of defects.
A clinical diagnosis is considered made when, with lentigines present there are 2 other symptoms observed, such as ECG abnormalities and ocular hypertelorism, or without lentigines, 3 of the above conditions are present, with a first-degree relative (i.e. parent, child, sibling) with a clinical diagnosis.
Wide spacing also explains the association between ocular hypertelorism - that is, the eyes being abnormally far apart - and widow's peak; this was suggested by findings in an unusual case of ocular hypertelorism in which surrounding scalp-hair growth was suppressed by an ectopic (displaced) eye.