Phenotypes associated with the disease Dysspondyloenchondromatosis (ORPHA:85198):
- Platyspondyly (HP:0000926): A flattened vertebral body shape with reduced distance between the vertebral endplates. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:85198)
- Intellectual disability (HP:0001249): The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:85198)
- Joint dislocation (HP:0001373): Displacement or malalignment of joints. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:85198)
- Cerebral calcification (HP:0002514): The presence of calcium deposition within the cerebrum. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:85198)
- Scoliosis (HP:0002650): The presence of an abnormal lateral curvature of the spine. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:85198)
- Spondylometaphyseal dysplasia (HP:0002657). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:85198)
- Delayed skeletal maturation (HP:0002750): A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:85198)
- Kyphoscoliosis (HP:0002751): An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:85198)
- Osteoarthritis (HP:0002758): Degeneration (wear and tear) of articular cartilage, i.e., of the joint surface. Joint degeneration may be accompanied by osteophytes (bone overgrowth), narrowing of the joint space, regions of sclerosis at the joint surface, or joint deformity. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:85198)
- Generalized joint hypermobility (HP:0002761): Joint hypermobility (ability of a joint to move beyond its normal range of motion) affecting many or all joints of the body. In individuals with Joint hypermobility at multiple sites (usually five or more), the term generalized joint hypermobility is preferred. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:85198)
- Genu valgum (HP:0002857): The legs angle inward, such that the knees are close together and the ankles far apart. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:85198)
- Anisospondyly (HP:0002879): Abnormally increased variability of the size of the vertebral bodies. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:85198)
- Abnormal fibula morphology (HP:0002991): An anomaly of the calf bone (fibula), one of the two bones of the calf. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:85198)
- Enlarged joints (HP:0003037): Increase in size of one or more joints. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:85198)
- Vertebral segmentation defect (HP:0003422): An abnormality related to a defect of vertebral separation during development. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:85198)
- Abnormal ulnar metaphysis morphology (HP:0004039): Any structural abnormality of the portion of the ulna between the epiphysis and the diaphysis. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:85198)
- Short stature (HP:0004322): A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:85198)
- Multiple enchondromatosis (HP:0005701). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:85198)
- Metaphyseal enchondromatosis (HP:0005868): An enchondroma is a benign growth of cartilage that develops within the medullary cavity of bone. Enchondromatosis refers to the presence of multiple enchondromas, and this term refers to the presence of multiple enchondromas within the medulla of metaphyseal bone. Radiographically an enchondroma presents a an oval, linear, or pyramidal osteolytic (radiolucent) lesion with well defined margins. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:85198)
- Pretibial blistering (HP:0012221): A type of blistering that affects the skin of the tibial region. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:85198)
- Lower limb asymmetry (HP:0100559): A difference in length or diameter between the left and right leg. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:85198)
- Exostoses (HP:0100777): An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage, and arises from a bone that develops from cartilage. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:85198)
- Skin erosion (HP:0200041): A discontinuity of the skin exhibiting incomplete loss of the epidermis, a lesion that is moist, circumscribed, and usually depressed. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:85198)