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Congenital eyelid anomalies: causes, symptoms, diagnosis, treatment
Medical expert of the article
Last reviewed: 07.07.2025
Cryptophthalmos is a complete loss of eyelid differentiation. This is an extremely rare pathology, the development of which is caused by a mother's illness during the period of eyelid development (the second month of pregnancy). With cryptophthalmos, the skin from the forehead to the cheek is continuous, fused with the cornea, the eyeball is underdeveloped. Cryptophthalmos is combined with such congenital anomalies as cleft lip and palate, laryngeal atresia, and brain hernias.
Coloboma of the eyelid is a full-thickness segmental defect of the eyelid with a base at its edge, most often formed in the medial part of the upper eyelid.
Congenital coloboma of the eyelids is a rare pathology, a consequence of incomplete fusion of the rudiments of the maxillary processes. The defect can be isolated, but can be combined with coloboma of the iris and choroid, it is often detected simultaneously with other anomalies: dermoid cysts, microphthalmos, mandibulofacial dysostosis and oculoauriculovertebral dysplasia. Coloboma of the eyelid in the absence of constant full hydration of the cornea can lead to its damage.
Coloboma of the upper eyelid forms at the border of the inner and middle thirds of the eyelid and is not associated with systemic anomalies.
Coloboma of the lower eyelid is formed at the border of the middle and outer third of the eyelid, often combined with systemic diseases, such as Treacher Collins syndrome.
The eyelid defect is corrected by direct fixation of the edges or by means of a skin flap. In the absence of corneal complications, delayed (for several years) eyelid reconstruction is possible. When an extensive lower eyelid coloboma is localized in the area of the inner corner of the eye slit, the risk of developing keratopathy is especially high, which requires early and significantly more complex reconstruction. The prognosis for surgical treatment is good.
Ankyloblepharon is a partial or complete fusion of the edges of the upper and lower eyelids, most often in the outer corner of the palpebral fissure, leading to its horizontal shortening. A very rare pathology; autosomal dominant inheritance is possible. Ankyloblepharon can be combined with skull deformations, colobomas of the choroid, symblepharon, epicanthus, anophthalmos. Surgical separation of the eyelids should be performed as early as possible. Acquired ankyloblepharon can be post-traumatic.
Surgical treatment of congenital eyelid anomalies is effective and is performed for cosmetic purposes.
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