Phenotypes associated with the disease syndactyly type 4 (OMIM:186200):
- Triphalangeal thumb (HP:0001199): A thumb with three phalanges in a single, proximo-distal axis. Thus, this term applies if the thumb has an accessory phalanx, leading to a digit like appearance of the thumb. Evidence: PCS. (PMID:18417549)
- Postaxial polydactyly (HP:0100259): A form of polydactyly in which the extra digit or digits are localized on the side of the fifth finger or fifth toe. Evidence: IEA. (OMIM:186200)
- 1-5 finger cutaneous syndactyly (HP:0010708): A soft tissue continuity in the anteroposterior axis between the thumb to the little finger that extends distally to at least the level of the proximal interphalangeal joints (complete syndactyly of all fingers of the hand). Evidence: PCS. (PMID:18417549)
- 1-5 finger complete cutaneous syndactyly (HP:0006088). Evidence: TAS. (OMIM:186200)
- Supernumerary metacarpal bones (HP:0005917): The presence of more than the normal number of metacarpal bones. Evidence: PCS. (OMIM:18417549)
- 2-3 toe syndactyly (HP:0004691): Syndactyly with fusion of toes two and three. Evidence: IEA. (OMIM:186200)
- Polydactyly (HP:0010442): A congenital anomaly characterized by the presence of supernumerary fingers or toes. Evidence: PCS. (PMID:18417549)
- 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:18417549)
- 6 metacarpals (HP:0001501). Evidence: TAS. (OMIM:186200)