- Proximal fifth finger symphalangism (HP:0009177): Fusion of the proximal and middle phalanges of the 5th finger. Evidence: PCS. (PMID:16127465)
- Abnormal finger flexion crease (HP:0006143): Anomalous flexion crease (i.e., a transverse line that crosses the skin of a finger). Evidence: PCS. (PMID:16127465)
- 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: PCS. (PMID:16127465)
- Pes planus (HP:0001763): A foot where the longitudinal arch of the foot is in contact with the ground or floor when the individual is standing; or, in a patient lying supine, a foot where the arch is in contact with the surface of a flat board pressed against the sole of the foot by the examiner with a pressure similar to that expected from weight bearing; or, the height of the arch is reduced. Evidence: PCS. (PMID:16892395)
- Short 2nd finger (HP:0009536): Hypoplasia of the second finger, also known as the index finger. Evidence: PCS. (PMID:16127465)
- 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: PCS. (PMID:16127465)
These phenotypes are associated with the disease symphalangism, proximal, 1B (OMIM:615298).