Li-Campeau syndrome (LICAS) is characterized by global developmental delay (delay in learning skills compared to other children), intellectual disability, distinctive facial features, hypothyroidism, and anomalies of the cardiac and genital systems.
The condition is caused by a genetic change (also called mutation or variant) in both copies of UBR7 gene. It is inherited in an autosomal recessive manner. This means that two healthy parents each carry one copy of UBR7 gene with a variant and, when their child inherited both copies with a variant, he will develop Li-Campeau syndrome. If both parents carry a defective copy of UBR7 gene, the probability to have an affected child is 25% for each pregnancy.
Li-Campeau syndrome is rare. To date, seven individuals from six unrelated families have been identified.
UBR7