Phenotypes associated with the disease digitotalar dysmorphism; ulnar drift, hereditary (OMIM:126050):
- Rocker bottom foot (HP:0001838): The presence of both a prominent heel and a convex contour of the sole. Evidence: TAS. (OMIM:126050)
- Camptodactyly of finger (HP:0100490): The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers cannot be extended to 180 degrees by either active or passive extension. Evidence: TAS. (OMIM:126050)
- Ulnar deviation of finger (HP:0009465): Bending or curvature of a finger toward the ulnar side (i.e., away from the thumb). The deviation is at the metacarpal-phalangeal joint, and this finding is distinct from clinodactyly. Evidence: TAS. (OMIM:126050)
- 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:126050)
- 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: TAS. (OMIM:126050)