Phenotypes associated with the disease Osteopathia striata-pigmentary dermopathy-white forelock syndrome (ORPHA:2779):
- Abnormal diaphysis morphology (HP:0000940): An abnormality of the structure or form of the diaphysis, i.e., of the main or mid-section (shaft) of a long bone. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2779)
- Abnormal metaphysis morphology (HP:0000944): An abnormality of one or more metaphysis, i.e., of the somewhat wider portion of a long bone that is adjacent to the epiphyseal growth plate and grows during childhood. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2779)
- White forelock (HP:0002211): A triangular depigmented region of white hairs located in the anterior midline of the scalp. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2779)
- Abnormal pelvic girdle bone morphology (HP:0002644): An abnormality of the bony pelvic girdle, which is a ring of bones connecting the vertebral column to the femurs. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2779)
- Macular hyperpigmented dermopathy (HP:0007412). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2779)
- Osteopathia striata (HP:0010740): A lamellar pattern visible on radiographs and mainly localized at the metaphyses of the long tubular bones. Pathologic-anatomical studies revealed that these benign signs on x-rays are the result of a juvenile metaphyseal bone necrosis. Calcifications in the necrotic marrow lead to this lamellar or lattice-like appearance. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2779)
- Coarse metaphyseal trabecularization (HP:0100670): Coarse appearance of the components of the network of osseous tissue that makes up the cancellous structure of a bone, i.e., thickening of the (usually fine) white lines that are produced by trabeculae in radiograms. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2779)