Phenotypes associated with the disease Syndactyly type 5 (ORPHA:93406, an Orphanet rare-disease identifier):
- Metatarsal synostosis (HP:0001440, a Human Phenotype Ontology term). Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:93406)
- Clinodactyly of the 5th finger (HP:0004209, a Human Phenotype Ontology term): Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger). Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:93406)
- 2-3 toe syndactyly (HP:0004691, a Human Phenotype Ontology term): Syndactyly with fusion of toes two and three. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:93406)
- 3-4 finger osseus syndactyly (HP:0006097, a Human Phenotype Ontology term): Fusion of the third (middle) and fourth (ring) finger, involving soft parts and including fusion of individual finger bones. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:93406)
- Ulnar deviation of finger (HP:0009465, a Human Phenotype Ontology term): 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. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:93406)
- Metacarpal synostosis (HP:0009701, a Human Phenotype Ontology term): Fusion involving two or more metacarpal bones (A synostosis of the first metacarpal and the proximal phalanx of the thumb can also be observed, note that the first metacarpal bone corresponds to a proximal phalanx). Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:93406)
- Short distal phalanx of finger (HP:0009882, a Human Phenotype Ontology term): 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: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:93406)
- Camptodactyly of finger (HP:0100490, a Human Phenotype Ontology term): 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. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:93406)