 It is caused by a combination of mutations (compound heterozygosity) in the CDH3 gene, which codes for Cadherin-3 (also known as P-Cadherin), a calcium-binding protein that is responsible for cellular adhesion in various tissues.The markedly anomalous hair growth should lead to a retinal examination by school entry at the latest, since weak vision will not necessarily be detected in the course of normal medical check-ups.Confirmation of a diagnosis, which is necessary for any future therapeutic options, is only possible by means of a molecular genetic diagnosis in the context of genetic counseling.