Phenotypes associated with the disease Congenital pseudoarthrosis of the clavicle (ORPHA:66630):
- Cervical ribs (HP:0000891). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:66630)
- Abnormality of the skeletal system (HP:0000924): An abnormality of the skeletal system. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:66630)
- Dextrocardia (HP:0001651): The heart is located in the right hand sided hemithorax. That is, there is a left-right reversal (or "mirror reflection") of the anatomical location of the heart in which the heart is locate on the right side instead of the left. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:66630)
- Situs inversus totalis (HP:0001696): A left-right reversal (or mirror reflection) of the anatomical location of the major thoracic and abdominal organs. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:66630)
- Osteoarthritis (HP:0002758): Degeneration (wear and tear) of articular cartilage, i.e., of the joint surface. Joint degeneration may be accompanied by osteophytes (bone overgrowth), narrowing of the joint space, regions of sclerosis at the joint surface, or joint deformity. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:66630)
- Congenital pseudoarthrosis of the clavicle (HP:0006585): The two portions of the clavicle (corresponding to the two primary ossification centers of the clavicle) are connected by a fibrous bridge that is contiguous with the periosteum, and a synovial membrane develops, resulting in a clavicle with a bipartite appearance radiographically. Congenital pseudarthrosis of the clavicle generally presents as a painless mass or swelling over the clavicle. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:66630)