Symptoms

The primary symptom to look for in proportionate short stature disorders is the noticeable slow growth of the skeletal trunk, skull and limbs, alongside the overall traditional proportions of the body.

In cases where an adult may be suffering a hormone deficiency, osteoporosis or brittle bones may be present, alongside cardiovascular disorders. Reduced muscle strength and a noticeably lower capacity for exercise may also be present.

Outside of this, Turner’s syndrome sufferers may notice slow proportionate growth alongside a reduced level of sexual maturation.

Additional symptoms

Additional symptoms linked to proportionate short stature include a wide neck, low hair line around the back of the skull and a broad chest with irregularly spaced nipples. A good area to analyse is the mouth – if the condition is present the jaw may be lower or receding and the roof of the mouth may be markedly narrow. Finally, you may notice the presence of a symptom known as cubitus valgus, in which the arms develop the ability to turn outwards at the elbows.

The symptoms for disproportionate short stature can initially be identified in the irregular shape and size of the limbs. People with the condition should also measure between 107 and 137cm, but there are some more specific symptoms to look for. People with disproportionate short stature often have noticeably larger heads, for example. This in turn can lead to some weakness in the joints between the bones in the neck, and a condition known as hydrocephalus whereby an excess of fluid is created in the cavities of the brain.

Symptoms may include osteoarthritis in the knee and hip joints, which lead to a reduction in movement.

Other noticeable problems

Other noticeable problems include the development of bowed legs, or genu varum, due to bone growth irregularities. Many of the symptoms linked to the condition are related to back problems as in certain instances the spinal cord can become compressed, along with the nerves in the back, leading to pain in the knees, hips and legs. In other cases spinal stenosis can occur, whereby the spinal canal, through which the spinal cord passes, can become narrow leading to further back pain and loss of feeling. In some instances, the spine can also curve to one side, a condition known as Scoliosis. Furthermore, kyphosis can occur, characterized by a curve in the upper region of the spine.

Outside of these physical changes, additional symptoms include a sleep apnoea in which a sufferer develops irregular breathing during periods of sleep leading to excessive tiredness. Speech, language and general learning difficulties can also be attributed to disproportionate short stature conditions.

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