- Osteopoikilosis (HP:0010739): Osteopoikilosis is a benign, asymptomatic sclerotic dysplasia of the bones. It affects both male and female and may be seen at any age. Radiographically sclerotic circular or ovoid lesions are usually symmetrically distributed in a periarticular location. Lesions can increase or decrease in size and number in serial radiographs or even disappear and do not have increased bone radiotracer uptake. Evidence: PCS. Frequency: 1/1. (PMID:28434888)
- Epidermal nevus (HP:0010816): Epidermal naevi are due to an overgrowth of the epidermis and may be present at birth (50%) or develop during childhood. Evidence: PCS. Frequency: 1/1. (PMID:28434888)
- Nevus (HP:0003764): A nevus is a type of hamartoma that is a circumscribed stable malformation of the skin. Evidence: PCS. Frequency: 1/1. (PMID:28434888)
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 1/1. (PMID:28434888)
- Scoliosis (HP:0002650): The presence of an abnormal lateral curvature of the spine. Evidence: PCS. Frequency: 1/1. (PMID:28434888)
- Joint stiffness (HP:0001387): Joint stiffness is a perceived sensation of tightness in a joint or joints when attempting to move them after a period of inactivity. Joint stiffness typically subsides over time. Evidence: IEA. (OMIM:166700)
- Flexion contracture (HP:0001371): A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints. Evidence: IEA. (OMIM:166700)
- Femoral osteopoikilosis (HP:6000943): Multiple multiple, small, well-defined radiodense foci of cortical-like bone in the medullary space parallel to the trabeculae located in the femur. The loci correspond to condensations of the lamellar trabeculae on histology. Evidence: PCS. (PMID:30430046)
- Connective tissue nevi (HP:0100898): Connective tissue nevi are hamartomas in which one or several components of the dermis is altered. Evidence: IEA. (OMIM:166700)
- Melorheostosis (HP:6000817): Regions of sclerosing hyperostosis in the cortex of long bones, which might have a radiologic appearance of dripping candle wax. Evidence: TAS. (OMIM:166700)
- Hoarse voice (HP:0001609): Hoarseness refers to a change in the pitch or quality of the voice, with the voice sounding weak, very breathy, scratchy, or husky. Evidence: IEA. (OMIM:166700)
- Lower limb asymmetry (HP:0100559): A difference in length or diameter between the left and right leg. Evidence: PCS. Frequency: 1/1. (PMID:28434888)
- 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:15489854)
These phenotypes are associated with the disease Buschke-Ollendorff syndrome (OMIM:166700).