OMIM ID:
Blepharocheilodontic Syndrome 2
Alternate Names
Defective Genes
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
Inheritance
Heterozygous mutations in the CTNND1 gene (11q12.1) are responsible for this condition.
Blepharocheilodontic syndrome 1 results from heterozygous mutations in the CDH1 gene (16q22.1).
Pedigree
Autosomal dominant
Autosomal dominant disorders require only one mutation for the disease to be expressed. Since an affected parent has two chromosomes, only one of which has the mutant gene, parents can expect that half (50%) of their children will receive that one and inherit the disease. It is common for individuals that inherit the mutation, however, to not have evidence of the disease (nonpenetrance).
Autosomal dominant inheritance leads to a vertical pattern of transmission