Total 8 clinical symptoms reported for Neonatal severe primary hyperparathyroidism
| Abnormal metaphysis morphology |
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 |
| Abnormality of the thyroid gland |
An abnormality of the thyroid gland.
Synonyms:Abnormality of the thyroid gland; Thyroid abnormality |
Very frequent |
| Hepatomegaly |
Abnormally increased size of the liver.
Synonyms:Enlarged liver |
Very frequent |
| Hypotonia |
Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.
Synonyms:Low muscle tone; Low or weak muscle tone; Muscle hypotonia; Muscular hypotonia |
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 |
| Recurrent fractures |
The repeated occurrence of bone fractures (implying an abnormally increased tendency for fracture).
Synonyms:Frequent fractures; Increased fracture rate; Increased fractures; Multiple fractures; Multiple spontaneous fractures; Recurrent fractures; Varying degree of multiple fractures |
Very frequent |
| Short stature |
A height below that which is expected according to age and sex 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 sex (or below the 3rd percentile for age and sex dependent norms).
Synonyms:Decreased body height; Height less than 3rd percentile; Short stature; Small stature; Stature below 3rd percentile |
Very frequent |
| Splenomegaly |
Abnormal increased size of the spleen.
Synonyms:Increased spleen size; Large spleen |
Very frequent |