Phenotypes associated with the disease Gnathodiaphyseal dysplasia (ORPHA:53697):
- Thickened cortex of long bones (HP:0000935): Abnormal thickening of the cortex of long bones. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:53697)
- Osteopenia (HP:0000938): Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:53697)
- Scoliosis (HP:0002650): The presence of an abnormal lateral curvature of the spine. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:53697)
- Recurrent fractures (HP:0002757): The repeated occurrence of bone fractures (implying an abnormally increased tendency for fracture). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:53697)
- Bowing of the long bones (HP:0006487): A bending or abnormal curvature of a long bone. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:53697)
- Mandibular osteomyelitis (HP:0007626): Osteomyelitis of the lower jaw. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:53697)
- Broad jaw (HP:0012802): Bigonial distance (lower facial width) more than 2 SD above the mean (objective); or an apparently increased width of the lower jaw (mandible) when viewed from the front (subjective). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:53697)