Total 26 clinical symptoms reported for Metatropic dysplasia
Abnormal cortical bone morphology |
An abnormality of compact bone (also known as cortical bone), which forms the dense surface of bones.
Synonyms:Abnormal compact bone morphology; Abnormality of cortical bone |
Very frequent |
Abnormal enchondral ossification |
An abnormality of the process of endochondral ossification, which is a type of replacement ossification in which bone tissue replaces cartilage.
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Very frequent |
Abnormal form of the vertebral bodies |
Abnormal morphology of vertebral body.
Synonyms:Abnormally shaped vertebrae |
Very frequent |
Abnormal intervertebral disk morphology |
Any structural abnormality of the intervertebral disk.
Synonyms:Abnormality of the intervertebral disk |
Very frequent |
Abnormal rib morphology |
An anomaly of the rib.
Synonyms:Abnormality of the ribs; Rib abnormalities; Rib anomalies |
Very frequent |
Abnormality of the metaphysis |
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.
Synonyms:Abnormality of the wide portion of a long bone |
Very frequent |
Coarse metaphyseal trabecularization |
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.
Synonyms:Coarse trabeculation at metaphyses; Rough bone trabeculation; Rough trabeculation of bone |
Very frequent |
Depressed nasal bridge |
Posterior positioning of the nasal root in relation to the overall facial profile for age.
Synonyms:Depressed bridge of nose; Depressed nasal bridge; Depressed nasal root; Flat bridge of nose; Flat nasal bridge; Flat nasal root; Flat, nasal bridge; Flattened nasal bridge; Low nasal bridge; Low nasal root; Retruded bridge of nose; Retruded nasal bridge |
Very frequent |
Halberd-shaped pelvis |
An anomalous radiographic appearance of the developing pelvis, in which the greater ischiadic noth (incisura ischiadica major) is shallow and the pelvis takes on the appearance said to resemble a halberd (a weapon especially of the 15th and 16th centuries consisting typically of a battle-ax and pike mounted on a handle).
Synonyms:Halberd-shaped pelvis bone |
Very frequent |
High forehead |
An abnormally increased height of the forehead.
Synonyms:High forehead |
Very frequent |
Hypoplastic cervical vertebrae |
Synonyms:Cervical vertebrae hypoplasia; Underdeveloped cervical vertebrae |
Very frequent |
Joint stiffness |
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.
Synonyms:Joint stiffness; Stiff joint; Stiff joints |
Very frequent |
Kyphosis |
Exaggerated anterior convexity of the thoracic vertebral column.
Synonyms:Gibbus deformity; Hunched back; Hyperkyphosis; Round back |
Very frequent |
Long thorax |
Increased inferior to superior extent of the thorax.
Synonyms:Long rib cage |
Very frequent |
Micromelia |
The presence of abnormally small extremities.
Synonyms:Smaller or shorter than typical limbs |
Very frequent |
Narrow chest |
Reduced width of the chest from side to side, associated with a reduced distance from the sternal notch to the tip of the shoulder.
Synonyms:Low chest circumference; Narrow chest; Narrow shoulders; Narrow thorax; Reduced anterior-posterior chest diameter |
Very frequent |
Scoliosis |
The presence of an abnormal lateral curvature of the spine.
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Very frequent |
Severe short stature |
A severe degree of short stature, more than -4 SD from the mean corrected for age and sex.
Synonyms:Dwarfism; Proportionate dwarfism; Severe short stature; Short stature, extreme; Short stature, severe |
Very frequent |
Skeletal dysplasia |
A general term describing features characterized by abnormal development of bones and connective tissues.
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Very frequent |