Question

Epicanthus is symptom of
A) Haploidy
B) Turner’s syndrome
C) Downs syndrome
D) Heteroploidy

Answer 1

Hint: Epicanthus or epicanthal fold is a semilunar fold of skin at the medial canthus, with its concavity facing outward.

Complete Answer:
1) The epicanthal fold obscures the view of the medial canthus including caruncle and plica semilunaris. This is the most common congenital lid condition. Epicanthus may be an isolated phenomenon or it may be an associated feature in patients with congenital ptosis (drooping of eyelids), Down’s syndrome or blepharophimosis (shortening of palpebral fissure both horizontally and vertically) syndrome. This condition may be unilateral or bilateral and is most prominent along the upper lid. Although it is a normal finding in people of Asian ancestry, it is abnormal in non-Asians.

2) Epicanthus gives rise to the appearance of pseudostrabismus (present as pseudoesotropia). This condition does not pose any problem to the eye. However, it produces parental concern because of its resemblance to pseudoesotropia. The gentle stretch of the soft tissues of the nasal bridge reduces the appearance of epicanthus at the medial canthus and reveals normal alignment of the eyes. Cover and cross-cover test reveals orthophoria (normal alignment of eyes).

3) Epicanthus generally disappears by the age of puberty as the nasal bridge grows. Epicanthus inversus is usually seen in association with blepharophimosis and may be associated with relative shortage of skin in the lateral periorbital area.

Hence, the correct answer is option C (Downs Syndrome).

Note: Epicanthus mainly results from a relative deficiency of skin in the vertical axis (as opposed to the horizontal axis) within the medial canthal area. It may occur alone or in association with other abnormalities.