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An epicanthic fold or epicanthus [6] is a skin fold of the upper eyelid that covers the inner corner (medial canthus) of the eye. [3] However, variation occurs in the nature of this feature and the possession of "partial epicanthic folds" or "slight epicanthic folds" is noted in the relevant literature.
In Down syndrome, the presence of epicanthal folds may give the false impression of strabismus, referred to as pseudostrabismus. Nasolacrimal duct obstruction, which causes tearing ( epiphora ), is more frequently bilateral and multifactorial than in children without Down syndrome.
Telecanthus is often associated with many congenital disorders. Congenital disorders such as Down syndrome, fetal alcohol syndrome, cri du chat syndrome, Klinefelter syndrome, Turner syndrome, Ehlers–Danlos syndrome, Waardenburg syndrome [3] often present with prominent epicanthal folds, and if these folds are nasal (as they most commonly are) they will cause telecanthus.
Mosaic Down syndrome: Only some cells in the person have an extra copy of chromosome 21. This genetic cause is considered rare. This genetic cause is considered rare.
Because of his perception that Down syndrome children shared physical facial similarities (epicanthal folds) with Mongolians, he used the terms mongolism and mongolian idiocy.[2] " Idiocy" was a medical term of the century referring to a severe degree of intellectual impairment."
A flat nasal bridge can be a sign of Down syndrome (Trisomy 21), Fragile X syndrome, 48,XXXY variant Klinefelter syndrome, [2] or Bartarlla-Scott syndrome. An appearance of a widened nasal bridge can be seen with dystopia canthorum , which is a lateral displacement of the inner canthi of the eyes. [ 3 ]
Blepharophimosis forms a part of blepharophimosis, ptosis, epicanthus inversus syndrome (BPES), also called blepharophimosis syndrome, which is an autosomal dominant condition characterised by blepharophimosis, ptosis (upper eyelid drooping), epicanthus inversus (skin folds by the nasal bridge, more prominent lower than upper lid) and telecanthus (widening of the distance between the inner ...
Due to overlapping dysmorphic features, such as epicanthic folds and upslanting palpebral fissures, some cases of trisomy X may be ascertained due to suspicion of Down syndrome. [3] When the primary symptom is tall stature, trisomy X may be considered alongside other conditions depending on the rest of the phenotype.