CTNND1

Parents

Variants of CTNND1 have been found to cause Blepharocheilodontic (BCD) syndrome and isolated cleft lip/palate (CLP). BCD syndrome is a rare disease characterized by eyelid malformations, CLP, sparse hair and dental anomalies (i.e., conical teeth and tooth agenesis). In few patients, hypothyroidism due to thyroid gland hypoplasia or aplasia have been reported. BCD syndrome is usually sporadic, but large families have been described. Identification of CDH1 and CTNND1 as disease causing genes, confirmed the autosomal-dominant inheritance of the condition. It means that one affected individual has a 50% risk to transmit the condition to his offspring. To date, about 10 patients from 6 families have been reported with a mutation in CTNND1. Prevalence of the diseases is not known.

Recently, de novo variants of CTNND1 have been identified in patients presenting with isolated CLP.