- Preaxial hand polydactyly (HP:0001177): Supernumerary digits located at the radial side of the hand. Polydactyly (supernumerary digits) involving the thumb occurs in many distinct forms of high variability and severity. Ranging from fleshy nubbins over varying degrees of partial duplication/splitting to completely duplicated or even triplicated thumbs or preaxial (on the radial side of the hand) supernumerary digits. Evidence: TAS. (OMIM:186350)
- Abnormal earlobe morphology (HP:0000363): An abnormality of the lobule of pinna. Evidence: TAS. (OMIM:186350)
- Broad toe (HP:0001837): Visible increase in width of the non-hallux digit without an increase in the dorso-ventral dimension. Evidence: TAS. (OMIM:186350)
- Preaxial foot polydactyly (HP:0001841): Duplication of all or part of the first ray. Evidence: TAS. (OMIM:186350)
- 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:186350)
- 1-2 toe complete cutaneous syndactyly (HP:0005767). Evidence: IEA. (OMIM:186350)
- Bifid distal phalanx of toe (HP:0001853). Evidence: TAS. (OMIM:186350)
These phenotypes are associated with the disease syndactyly-polydactyly-ear lobe syndrome (OMIM:186350).