- Multiple exostoses (HP:0002762): Presence of more than one exostosis. An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage, and arises from a bone that develops from cartilage. Evidence: PCS. Frequency: 38/38. (PMID:11432960;PMID:34012378;PMID:35106951)
- Juvenile onset (HP:0003621): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: PCS. Frequency: 2/2. (PMID:34012378)
- Madelung-like forearm deformities (HP:0003068). Evidence: IEA. (OMIM:133700)
- Short stature (HP:0004322): A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms). Evidence: PCS. Frequency: 1/27. (PMID:11432960)
- Pelvic bone exostoses (HP:0003276): A benign growth the projects outward from the bone surface of the pelvis. Exostoses are capped by cartilage, and arise from a bone that develops from cartilage. Evidence: IEA. (OMIM:133700)
- Short metacarpal (HP:0010049): Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal. Evidence: IEA. (OMIM:133700)
- Scapular exostoses (HP:0000918): The presence of multiple exostoses on the scapula. An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage. Evidence: IEA. (OMIM:133700)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 8/8. (PMID:35106951)
- Coxa vara (HP:0002812): Coxa vara includes all forms of decrease of the femoral neck shaft angle (the angle between the neck and the shaft of the femur) to less than 120 degrees. Evidence: IEA. (OMIM:133700)
- Peripheral nerve compression (HP:0003406). Evidence: IEA. (OMIM:133700)
- Cervical myelopathy (HP:0002318): A collection of pathologic conditions that result from progressive spinal cord dysfunction secondary to cord compression in the cervical spine. Evidence: IEA. (OMIM:133700)
- Genu valgum (HP:0002857): The legs angle inward, such that the knees are close together and the ankles far apart. Evidence: IEA. (OMIM:133700)
- Chondrosarcoma (HP:0006765): A slowly growing malignant neoplasm derived from cartilage cells. Evidence: PCS. Frequency: 7/37. (PMID:11432960;PMID:34012378;PMID:35106951)
- 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:7550340)
- Protuberances at ends of long bones (HP:0003105): The presence of multiple protuberances (bulges, or knobs) at the ends of the long bones. Evidence: IEA. (OMIM:133700)
- Rib exostoses (HP:0000896): Multiple circumscribed bony excrescences located in the ribs. Evidence: IEA. (OMIM:133700)
These phenotypes are associated with the disease exostoses, multiple, type 1 (OMIM:133700).