CTNND1

Professionals

Variants of CTNND1 have been found to cause Blepharocheilodontic (BCD) syndrome (MIM# 617681), a rare disorder characterized by eyelid malformations, Cleft Lip with or without cleft Palate (CLP) and dental anomalies. CLP, usually bilateral, is the major feature. Eyelid malformations (ectropion of the lower eyelids, euryblepharon, and lagophthalmia) are typical. Patients have variable expression of ectodermal dysplasia, with constant dental anomalies (i.e., conical teeth and tooth agenesis). In addition, hypothyroidism due to thyroid gland hypoplasia or aplasia has been reported in a few patients. BCD syndrome is usually sporadic, but large affected families have been described.

Identification of CDH1 and CTNND1 as causing genes, confirmed the autosomal-dominant inheritance of the condition. To date, about 10 patients from 6 families have been reported with a variant of CTNND1, highlighting significant intrafamilial variability. Prevalence of the disease is not known. It is assumed that BCD syndrome is less severe when caused by CTNND1 variants rather than when due to CDH1 variants.

Recently, de novo variants of CTNND1 have been identified in patients presenting Non-Syndromic Cleft Lip with or without Cleft Palate (NSCLP), widening phenotypic spectrum due to CTNND1 variants.