Phenotypes associated with the disease Sugarman brachydactyly (OMIM:272150):
- 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: TAS. (OMIM:272150)
- Double first metacarpals (HP:0005894): Duplication of the metacarpal I bones. Evidence: IEA. (OMIM:272150)
- Proximal finger symphalangism (HP:0006152): The term proximal symphalangism refers to a bony fusion of the middle and proximal phalanges of the digits of the hand, in other words the proximal interphalangeal joint (PIJ) is missing which can be seen either on x-rays or as an absence of the proximal interphalangeal finger creases. Evidence: TAS. (OMIM:272150)
- Short proximal phalanx of finger (HP:0010241): Congenital hypoplasia of one or more proximal phalanx of finger. Evidence: TAS. (OMIM:272150)
- Proximal placement of hallux (HP:0011926): Proximal mislocalization of the big toe from its normal position. Evidence: TAS. (OMIM:272150)
- Autosomal recessive inheritance (HP:0000007): 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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: IEA. (OMIM:272150)