Hereditary Ocular Diseases
Published on Hereditary Ocular Diseases (https://disorders.eyes.arizona.edu)

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Blepharocheilodontic Syndrome 2

Clinical Characteristics
Ocular Features: 

The eyelids are disproportionately large with ectropion of the lower lid.  There is often a duplicate row of lashes (distichiasis) and there may be lagophthalmos and euryblepharon present.  Hypertelorism has been described. 

Systemic Features: 

The teeth are often conical and some may be absent.  Cleft lip and palate are often present.  The forehead is prominent and the frontal hairline is posteriorly located.

Genetics

Heterozygous mutations in the CTNND1 [1] gene (11q12.1) are responsible for this condition.

Blepharocheilodontic syndrome 1 [2] results from heterozygous mutations in the CDH1 [3] gene (16q22.1).

Treatment
Treatment Options: 

Treatment consists of surgical repair of dental, eyelid, and oral defects.

References
Article Title: 

Blepharocheilodontic syndrome is a CDH1 pathway-related disorder due to mutations in CDH1 and CTNND1 [4]

Ghoumid J, Stichelbout M, Jourdain AS, Frenois F, Lejeune-Dumoulin S, Alex-Cordier MP, Lebrun M, Guerreschi P, Duquennoy-Martinot V, Vinchon M, Ferri J, Jung M, Vicaire S, Vanlerberghe C, Escande F, Petit F, Manouvrier-Hanu S. Blepharocheilodontic syndrome is a CDH1 pathway-related disorder due to mutations in CDH1 and CTNND1. Genet Med. 2017 Sep;19(9):1013-1021.

PubMed ID: 
28301459
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Source URL:https://disorders.eyes.arizona.edu/disorders/blepharocheilodontic-syndrome-2

Links
[1] http://ghr.nlm.nih.gov/gene/CTNND1 [2] https://disorders.eyes.arizona.edu/disorders/blepharocheilodontic-syndrome-1 [3] http://ghr.nlm.nih.gov/gene/CDH1 [4] https://disorders.eyes.arizona.edu/references/blepharocheilodontic-syndrome-cdh1-pathway-related-disorder-due-mutations-cdh1-and-ctnnd1