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Blepharocheilodontic syndrome
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Condition

Blepharocheilodontic syndrome

Blepharocheilodontic (BCD) syndrome is a congenital disorder primarily affecting the eyelids, upper lip, and teeth.

Overview

Blepharocheilodontic (BCD) syndrome is a disorder that is present at birth. It mainly affects the eyelids (blepharo-), upper lip (-cheilo-), and teeth (-dontic).

People with BCD syndrome have lower eyelids that turn out so that the inner surface is exposed (ectropion). The outside of the lower lid may sag away from the eye (euryblepharon), and the eyelids may not be able to close completely (lagophthalmia). There can be extra eyelashes (distichiasis) on the upper eyelids, ranging from a few extra eyelashes to a full extra set. These eyelashes do not grow along the edge of the eyelid with the normal lashes, but out of its inner lining. When the abnormal eyelashes touch the eyeball, they can cause damage to the clear covering of the eye (cornea). Affected individuals may also have widely spaced eyes (

Frequently Asked Questions

Lid tightening procedures such as lateral canthoplasty, medial canthoplasty, or full‑thickness lid shortening can reposition the lid margin. For severe lagophthalmos, a temporary or permanent tarsorrhaphy (partial eyelid closure) may be performed. Reconstruction is usually staged, beginning in early childhood to protect the cornea, with revisions as the child grows.
Because lagophthalmos and ectropion expose the cornea, aggressive lubrication with preservative‑free artificial tears during the day and ointment at night is mandatory. Protective goggles or moisture‑retaining eye shields are useful during sleep. Regular ophthalmology visits (every 6‑12 months) monitor for corneal scarring, ulceration, or refractive errors, and prompt treatment of any epithelial breakdown prevents permanent vision loss.
multidisciplinary approach is essential. Early orthodontic evaluation can guide space maintenance. Pediatric dentists may place composite buildups or crowns on malformed teeth, while missing teeth are often replaced later with dental implants or removable prostheses after facial growth is complete. Regular dental hygiene and fluoride treatments help prevent decay in the remaining teeth.
Most cases are autosomal dominant due to mutations in the TP63 gene, though de novo mutations occur. First‑degree relatives should be offered clinical examination (eyelid, oral, and facial assessment) and, if available, targeted genetic testing for the identified TP63 variant. Early detection allows timely surgical and dental interventions.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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