Phenotypes associated with the disease breasts and/or nipples, aplasia or hypoplasia of, 1 (OMIM:113700):
- Hypoplastic areola (HP:0100853): Underdevelopment of the areola, the circular area of pigmented skin surrounding the nipple. Evidence: IEA. Frequency: Very rare (HP:0040284). (OMIM:113700)
- Choanal atresia (HP:0000453): Absence or abnormal closure of the choana (the posterior nasal aperture). Most embryologists believe that posterior choanal atresia results from a failure of rupture between the 35th and 38th day of fetal life of the partition which separates the bucconasal or buccopharyngeal membranes. The resultant choanal atresia may be unilateral or bilateral, bony or membranous, complete or incomplete. In over 90 per cent of cases the obstruction is bony, while in the remainder it is membranous. The bony type of atresia is commonly located 1-2 mm. anterior to the posterior edge of the hard palate, and the osseous septum varies in thickness from 1 to 10 mm. In the membranous form of choanal atresia the obstruction usually occurs further posteriorly. In approximately one third of cases the atresia is bilateral. Evidence: TAS. Frequency: Occasional (HP:0040283). (OMIM:113700)
- Absent nipple (HP:0002561): Congenital failure to develop, and absence of, the nipple. Evidence: TAS. (OMIM:113700)
- Aplasia/Hypoplasia of the nipples (HP:0006709). Evidence: IEA. (OMIM:113700)
- Aplasia/Hypoplasia of the breasts (HP:0010311): Absence or underdevelopment of the breasts. Evidence: IEA. (OMIM:113700)
- X-linked inheritance (HP:0001417): A mode of inheritance that is observed for traits related to a gene encoded on the X chromosome. Evidence: TAS. (OMIM:113700)
- Autosomal dominant inheritance (HP:0000006): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: TAS. (OMIM:113700)