- Tibial bowing (HP:0002982): A bending or abnormal curvature of the tibia. Evidence: TAS. (OMIM:114000)
- Cortical irregularity (HP:0005731): An abnormal irregularity of cortical bone. Evidence: TAS. (OMIM:114000)
- Joint hypermobility (HP:0001382): The capability that a joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes. Evidence: PCS. (PMID:15864348)
- Subperiosteal bone formation (HP:0031485): The formation of new bone along the cortex and underneath the periosteum of a bone. Evidence: PCS. Frequency: 3/3. (PMID:15864348)
- Thickened cortex of the radius (HP:6000811): Abnormally increased thickness of the cortical layer of the radius. Evidence: PCS. (PMID:24390061)
- Calvarial hyperostosis (HP:0004490): Excessive growth of the calvaria. Evidence: TAS. Onset: Infantile onset (HP:0003593). (OMIM:114000)
- Thickened cortex of the clavicle (HP:6000936): Abnormal thickening of the cortex of the clavicle. Evidence: PCS. (PMID:24390061)
- Thickened cortex of the ulna (HP:6000812): Abnormally increased thickness of the cortical layer of the ulna. Evidence: PCS. (PMID:24390061)
- Thickened cortex of the mandible (HP:6000937): Abnormal thickening of the cortex of the mandible. Evidence: PCS. (PMID:24390061)
- Thickened tibial cortex (HP:6000809): Abnormally increased thicknes of the cortical layer of the tibia. Evidence: PCS. (PMID:21249479)
- Bowing of the legs (HP:0002979): A bending or abnormal curvature affecting a long bone of the leg. Evidence: TAS. Onset: Congenital onset (HP:0003577). (OMIM:114000)
- Periosteal thickening of long tubular bones (HP:0006465): Thickening of the periosteum of long bone. Evidence: PCS. Frequency: 3/3. Onset: Infantile onset (HP:0003593). (PMID:15864348)
- Fever (HP:0001945): Body temperature elevated above the normal range. Evidence: TAS. (OMIM:114000)
- 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:15864348)
These phenotypes are associated with the disease Caffey disease (OMIM:114000).