Blepharo-cheilo-odontic syndrome

Blepharo-cheilo-odontic (BCO) syndrome, also known as blepharo-cheilo-dontic syndrome or Elschnig syndrome, is an extremely rare congenital disorder that primarily affects the eyelids (blepharo-), lips (cheilo-), and teeth (odontic). The condition is characterized by a triad of clinical features: bilateral upper eyelid distichiasis (abnormal growth of extra eyelashes from the meibomian glands) or lagophthalmos (inability to fully close the eyelids), cleft lip with or without cleft palate, and dental anomalies including oligodontia (congenitally missing teeth), small or malformed teeth, and enamel defects. Additional features may include euryblepharon (abnormally wide palpebral fissures), ectropion of the lower eyelids, and impaired lacrimal drainage. The syndrome affects multiple body systems during development, primarily the craniofacial structures. Ocular complications can include corneal exposure and dryness due to incomplete eyelid closure, which may lead to secondary corneal damage if untreated. The dental abnormalities can significantly impact feeding and nutrition in early childhood. Some patients may also present with sparse hair, syndactyly, or other minor limb anomalies. Treatment is symptomatic and multidisciplinary, involving ophthalmologists, oral and maxillofacial surgeons, and dentists. Surgical correction of cleft lip and palate is typically performed in infancy following standard protocols. Eyelid abnormalities may require surgical intervention to protect the cornea, and lubricating eye drops may be necessary. Dental rehabilitation, including prosthetic replacements and orthodontic treatment, is important for functional and cosmetic outcomes. Genetic counseling is recommended for affected families. Only a small number of cases have been reported in the medical literature.

Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.

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