Phenotypes associated with the disease Pyle disease (ORPHA:3005):
- Genu valgum (HP:0002857): The legs angle inward, such that the knees are close together and the ankles far apart. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3005)
- Erlenmeyer flask deformity of the femurs (HP:0004975): Flaring of distal femur. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3005)
- Mandibular prognathia (HP:0000303): Abnormal prominence of the chin related to increased length of the mandible. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3005)
- Protruding ear (HP:0000411): Angle formed by the plane of the ear and the mastoid bone greater than the 97th centile for age (objective); or, outer edge of the helix more than 2 cm from the mastoid at the point of maximum distance (objective). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3005)
- Carious teeth (HP:0000670): Caries is a multifactorial bacterial infection affecting the structure of the tooth. This term has been used to describe the presence of more than expected dental caries. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3005)
- Dental malocclusion (HP:0000689): Dental malocclusion refers to an abnormality of the occlusion, or alignment, of the teeth and the way the upper and lower teeth fit together, resulting in overcrowding of teeth or in abnormal bite patterns. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3005)
- Increased susceptibility to fractures (HP:0002659): An abnormally increased tendency to fractures of bones caused by an abnormal reduction in bone strength that is generally associated with an increased risk of fracture. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3005)
- Enlarged metaphyses (HP:0003051): Abnormal increase in size of one or more metaphyses. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3005)
- Craniofacial osteosclerosis (HP:0005464): Abnormally increased density of craniofacial bone tissue. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3005)
- Medial widening of clavicle (HP:0006599). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3005)
- Delayed eruption of permanent teeth (HP:0000696): Delayed tooth eruption affecting the secondary dentition. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3005)
- Platyspondyly (HP:0000926): A flattened vertebral body shape with reduced distance between the vertebral endplates. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3005)
- Muscle weakness (HP:0001324): Reduced strength of muscles. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3005)
- Wormian bones (HP:0002645): The presence of extra bones within a cranial suture. Wormian bones are irregular isolated bones which appear in addition to the usual centers of ossification of the cranium. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3005)
- Scoliosis (HP:0002650): The presence of an abnormal lateral curvature of the spine. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3005)
- Arthralgia (HP:0002829): Joint pain. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3005)
- Back pain (HP:0003418): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the back. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3005)
- Thin calvarium (HP:0010539): The presence of an abnormally thin calvarium. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3005)