Phenotypes associated with the disease Leri pleonosteosis (ORPHA:2900, an Orphanet rare-disease identifier):
- Upslanted palpebral fissure (HP:0000582, a Human Phenotype Ontology term): The palpebral fissure inclination is more than two standard deviations above the mean for age (objective); or, the inclination of the palpebral fissure is greater than typical for age. Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:2900)
- Abnormal metaphysis morphology (HP:0000944, a Human Phenotype Ontology term): 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, a Human Phenotype Ontology term). (ORPHA:2900)
- Thickened skin (HP:0001072, a Human Phenotype Ontology term): Laminar thickening of skin. Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:2900)
- Brachydactyly (HP:0001156, a Human Phenotype Ontology term): Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here. Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:2900)
- Abnormal finger morphology (HP:0001167, a Human Phenotype Ontology term): An anomaly of a finger. Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:2900)
- Gait disturbance (HP:0001288, a Human Phenotype Ontology term): The term gait disturbance can refer to any disruption of the ability to walk. Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:2900)
- Joint stiffness (HP:0001387, a Human Phenotype Ontology term): 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: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:2900)
- Genu recurvatum (HP:0002816, a Human Phenotype Ontology term): An abnormally increased extension of the knee joint, so that the knee can bend backwards. Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:2900)
- Abnormal vertebral body morphology (HP:0003312, a Human Phenotype Ontology term): Abnormal form of vertebral body, which is the central cylindrical portion of the vertebra that together with other structures such as the vertebral arch, pedicles, laminae, spinous process, transverse processes, and articular facets makes up a vertebra. Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:2900)
- Severe short stature (HP:0003510, a Human Phenotype Ontology term): A severe degree of short stature, more than -4 SD from the mean corrected for age and sex. Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:2900)
- Abnormal metacarpal morphology (HP:0005916, a Human Phenotype Ontology term): Any abnormal shape or structure of the metacarpal bones. Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:2900)
- Abnormal epiphysis morphology (HP:0005930, a Human Phenotype Ontology term): An anomaly of epiphysis, which is the expanded articular end of a long bone that developes from a secondary ossification center, and which during the period of growth is either entirely cartilaginous or is separated from the shaft by a cartilaginous disk. Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:2900)
- Broad thumb (HP:0011304, a Human Phenotype Ontology term): Increased thumb width without increased dorso-ventral dimension. Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:2900)
- Camptodactyly of finger (HP:0100490, a Human Phenotype Ontology term): The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers cannot be extended to 180 degrees by either active or passive extension. Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:2900)
- Lack of skin elasticity (HP:0100679, a Human Phenotype Ontology term). Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:2900)
- Blepharophimosis (HP:0000581, a Human Phenotype Ontology term): A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:2900)
- Subcutaneous nodule (HP:0001482, a Human Phenotype Ontology term): Slightly elevated lesions on or in the skin with a diameter of over 5 mm. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:2900)
- Scoliosis (HP:0002650, a Human Phenotype Ontology term): The presence of an abnormal lateral curvature of the spine. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:2900)
- Cubitus valgus (HP:0002967, a Human Phenotype Ontology term): Abnormal positioning in which the elbows are turned out. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:2900)
- Short palpebral fissure (HP:0012745, a Human Phenotype Ontology term): Distance between the medial and lateral canthi is more than 2 SD below the mean for age (objective); or, apparently reduced length of the palpebral fissures. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:2900)
- Abnormally straight spine (HP:0100795, a Human Phenotype Ontology term): The absence of the normal curvature of the vertebral column. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:2900)
- Strabismus (HP:0000486, a Human Phenotype Ontology term): A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:2900)
- Elbow dislocation (HP:0003042, a Human Phenotype Ontology term): Dislocation of the distal humerus out of the elbow joint, where the radius, ulna, and humerus meet. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:2900)