Congenital<unk>  can be associated with both autosomal dominant and recessive inheritance. However, in clinical research, autosomal recessive heritage<unk>  is uncommon. Mutation of genes may disrupt the normal process and results in abnormity of breast. The protein tyrosine receptor type F gene (PTPRF) is particularly important in nipple-areola region development. PTPRF encodes protein phosphatase which can localize at adherent junction. This phosphatase may also regulate epithelial cell to enable cell- cell interaction. PTPRF is also responsible for growth factor signalling and Wnt pathway. Homozygous frameshift mutation in PTPRF may cause<unk> , which suggests the causative relationship between PTPRF defect and syndromic<unk> .
Amastia
Hamartia 
Macrodontia 
Macrotia
Acrania
Spotted lunulae
Cystic eyeball
Auricular hypertrichosis