BCD syndrome

Blepharocheilodontic Syndrome 1

Clinical Characteristics
Ocular Features: 

The eyelids are disproportionately large with an associated lagophthalmos and lower lid ectropion.  The upper eyelids may have a double row of lashes (distichiasis).  Hypertelorism and a broad nasal root have been reported.

Systemic Features: 

A cleft lip and palate are major features and are usually bilateral.  The teeth are conically shaped with microdontia and oligodontia (involving both primary and secondary dentition) often present as well.  Several newborns have had an imperforate anus. Scalp hair may be sparse and hypoplastic nails have been described.  Hypothyroidism and thyroid agenesis has been documented in several patients.


This is an autosomal dominant condition resulting from mutations in the CDH1 gene (16q22.1).

Blepharocheilodontic syndrome 2 is caused by mutations in the CTNND1 gene (16q22.1).

Other conditions with distichiasis include Blatt distichiasis (126300) and lymphedema-distichiasis (153400).

Autosomal dominant
Treatment Options: 

Treatment consists of correction of individual anomalies such as eyelid, oral, and dental malformations.

Article Title: 

Blepharo-cheilo-dontic (BCD) syndrome

Gorlin RJ, Zellweger H, Curtis MW, Wiedemann HR, Warburg M, Majewski F, Gillessen-Kaesbach G, Prahl-Andersen B, Zackai E. Blepharo-cheilo-dontic (BCD) syndrome. Am J Med Genet. 1996 Oct 16;65(2):109-12.

PubMed ID: 
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