- Partial-complete absence of 5th phalanges (HP:0006209). Evidence: IEA. (OMIM:176240)
- 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:176240)
- Absent fifth metatarsal (HP:0008079): A developmental abnormality characterized by the absence of the fifth metatarsal bone. Evidence: IEA. (OMIM:176240)
- Single transverse palmar crease (HP:0000954): The distal and proximal transverse palmar creases are merged into a single transverse palmar crease. Evidence: IEA. (OMIM:176240)
- Lunate-triquetral fusion (HP:0004251): Osseous fusion of the lunate and triquetrum. Evidence: IEA. (OMIM:176240)
- Postaxial oligodactyly (HP:0006210). Evidence: IEA. (OMIM:176240)
- Aplasia of the 5th metacarpal (HP:0010046): Absence of the fifth long bone of the hand. Evidence: IEA. (OMIM:176240)
- 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:176240)
- Radial bowing (HP:0002986): A bending or abnormal curvature of the radius. Evidence: IEA. (OMIM:176240)
- 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:176240)
- Cone-shaped epiphysis (HP:0010579): Cone-shaped epiphyses (also known as coned epiphyses) are epiphyses that invaginate into cupped metaphyses. That is, the epiphysis has a cone-shaped distal extension resulting from increased growth of the central portion of the epiphysis relative to its periphery. Evidence: IEA. (OMIM:176240)
These phenotypes are associated with the disease postaxial tetramelic oligodactyly (OMIM:176240).