- Prominent antihelix (HP:0000395): The presence of an abnormally prominent antihelix. Evidence: IEA. (OMIM:193530)
- Small nail (HP:0001792): A nail that is diminished in length and width, i.e., underdeveloped nail. Evidence: IEA. (OMIM:193530)
- Short palm (HP:0004279): Short palm. Evidence: IEA. (OMIM:193530)
- Brachydactyly (HP:0001156): Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here. Evidence: IEA. (OMIM:193530)
- Postaxial hand polydactyly (HP:0001162): Supernumerary digits located at the ulnar side of the hand (that is, on the side with the fifth finger). Evidence: IEA. (OMIM:193530)
- Nail dysplasia (HP:0002164): The presence of developmental dysplasia of the nail. Evidence: IEA. (OMIM:193530)
- Hypotelorism (HP:0000601): Interpupillary distance less than 2 SD below the mean (alternatively, the appearance of an decreased interpupillary distance or closely spaced eyes). Evidence: IEA. (OMIM:193530)
- Clinodactyly of the 5th finger (HP:0004209): Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger). Evidence: IEA. (OMIM:193530)
- Postaxial foot polydactyly (HP:0001830): Polydactyly of the foot most commonly refers to the presence of six toes on one foot. Postaxial polydactyly affects the lateral ray and the duplication may range from a well-formed articulated digit to a rudimentary digit. Evidence: IEA. (OMIM:193530)
- 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: IEA. (OMIM:193530)
- Solitary median maxillary central incisor (HP:0006315): A single maxillary central incisor positioned in the midline with morphological symmetry of the crown and bordered by lateral incisors. Evidence: IEA. (OMIM:193530)
- Conical tooth (HP:0000698): An abnormal conical form of the teeth, that is, a tooth whose sides converge or taper together incisally. Evidence: IEA. (OMIM:193530)
- Mild short stature (HP:0003502): A mild degree of short stature, more than -2 SD but not more than -3 SD from mean corrected for age and sex. Evidence: IEA. (OMIM:193530)
These phenotypes are associated with the disease acrofacial dysostosis, Weyers type (OMIM:193530).