Phenotypes associated with the disease syndactyly type 5 (OMIM:186300):
- 3-4 finger cutaneous syndactyly (HP:0011939): A soft tissue continuity in the A/P axis between fingers 3 and 4. Evidence: PCS. Frequency: 4/13. (PMID:17236141)
- 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: PCS. (PMID:17236141)
- Postaxial hand polydactyly (HP:0001162): Supernumerary digits located at the ulnar side of the hand (that is, on the side with the fifth finger). Evidence: PCS. Frequency: 1/13. (PMID:17236141)
- 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: PCS. Frequency: 10/13. (PMID:17236141)
- Absent distal interphalangeal creases (HP:0001032): Absence of the distal interphalangeal flexion creases of the fingers. Evidence: PCS. Frequency: 13/13. (PMID:17236141)
- 4-5 toe syndactyly (HP:0004692): Syndactyly with fusion of toes four and five. Evidence: PCS. Frequency: 2/13. (PMID:17236141)
- Absent middle phalanx of the 3rd toe (HP:0100381): Developmental aplasia of the middle phalanx of third toe. Evidence: PCS. Frequency: 13/13. (PMID:17236141)
- Short 5th metacarpal (HP:0010047): Short fifth metacarpal bone. Evidence: PCS. Frequency: 6/13. (PMID:17236141)
- Ulnar deviation of the 5th finger (HP:0009180): Displacement of the 5th finger towards the ulnar side. Evidence: PCS. Frequency: 12/13. (PMID:17236141)
- Short metatarsal (HP:0010743): Diminished length of a metatarsal bone, with resultant proximal displacement of the associated toe. Evidence: PCS. (PMID:17236141)
- Ulnar deviation of the 3rd finger (HP:0009463): Displacement of the 3rd finger towards the ulnar side (i.e., towards the ring finger). Evidence: PCS. Frequency: 12/13. (PMID:17236141)
- Enlarged proximal interphalangeal joints (HP:0006185). Evidence: IEA. (OMIM:186300)
- Joint contracture of the hand (HP:0009473): Contractures of one ore more joints of the hands meaning chronic loss of joint motion due to structural changes in non-bony tissue. Evidence: IEA. (OMIM:186300)
- Short 4th metacarpal (HP:0010044): Short fourth metacarpal bone. Evidence: PCS. Frequency: 6/13. (PMID:17236141)
- Ulnar deviation of the 4th finger (HP:0009278): Displacement of the 4th finger towards the ulnar side (i.e., towards the 5th finger). Evidence: PCS. Frequency: 12/13. (PMID:17236141)
- 2-3 toe cutaneous syndactyly (HP:0005709). Evidence: PCS. Frequency: 14/17. (PMID:17236141)
- Short distal phalanx of finger (HP:0009882): Short distance from the end of the finger to the most distal interphalangeal crease or the distal interphalangeal joint flexion point. That is, hypoplasia of one or more of the distal phalanx of finger. Evidence: PCS. Frequency: 12/13. (PMID:17236141)
- Ulnar deviation of the 2nd finger (HP:0009464): Displacement of the 2nd (index) finger towards the ulnar side. Evidence: PCS. Frequency: 12/13. (PMID:17236141)
- Broad distal phalanx of the thumb (HP:0009642): Increased width of the distal phalanx of thumb. Evidence: PCS. Frequency: 11/17. (PMID:17236141)
- 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. Frequency: 3/13. (PMID:17236141)
- 3-4 toe syndactyly (HP:0009779): Syndactyly with fusion of toes three and four. Evidence: PCS. Frequency: 2/13. (PMID:17236141)
- Carpal synostosis (HP:0009702): Synostosis (bony fusion) involving one or more bones of the carpus (scaphoid, lunate, triquetrum, trapezium, trapezoid, capitate, hamate, pisiform). Evidence: IEA. (OMIM:186300)
- 4-5 metacarpal synostosis (HP:0005867). Evidence: PCS. Frequency: 9/11. (PMID:17236141)
- 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:17236141)