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RF138rx-04Skeletal dysplasias or OsteoChondroDysplasias (OCD) are clinically and etiologically very heterogeneous genetic diseases that affects skeletal growth and development leading to short stature in most of the cases. The short stature can change body proportions in a significant number of cases. Birth defects such as polydactyly, cleft palate and others can be associated with a few types of OCD.

The OCD can be very rare, however altogether they occur in approximately one in every 1,000 births. Currently, more than 300 OCDs are known, with almost half manifested at birth or in the perinatal period and approximately 30% of them are lethal or semi-lethal.

Although the main tool for diagnosis is the simple radiographic examination of the skeleton, a cheap and accessible exam for everyone, the interpretation of the X-rays needs an expert in the field of skeletal dysplasia.

The idea of the present site is to help with the diagnosis of OCD, especially those with perinatal manifestation.

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