Congenital isolated or syndromic osteodystrophies
What is it?
These are pathologies present from birth associated with changes in the development and maturation of cartilage or bones.
There are over 100 different forms of osteochondrodysplasia, the most common of which is achondroplasia. Achondroplasia is characterized by disharmonious short stature with a decrease in the size of the proximal parts of both the upper and lower extremities (humerus and thigh). Patients with achondroplasia may suffer from the following: both health problems associated with short stature and physical problems,
in particular, hearing loss and damage to the spine at the cervical level in children and more often at the lumbar level in adulthood, which are associated with impaired bone growth and frequent kyphosis in these patients.
Which are the symptoms?
Congenital osteochondrodysplasias are genetic pathologies that are recognized by the marked disharmonious short stature and various alterations in the affected child's facies.
They are genetic pathologies with autosomal dominant transmission that most frequently arise de novo, i.e. with both parents healthy.
How is it diagnosed?
The definitive diagnosis is genetic, while the suspicion is based on the characteristic clinical changes. Laboratory tests are not helpful in making the diagnosis, while radiographs of different portions of the body can help in formulating the clinical suspicion. For some of these diseases, such as for example achondroplasia, prenatal diagnosis can be made in the case of increased fetal risk.
Suggested exams
How is it treated?
There is no real cure for these pathologies.
The short stature is in some cases improved (especially for socio-sanitary reasons) through multiple interventions to lengthen the limbs, both upper and lower. Growth hormone therapy was found to be ineffective.
Finally, it is very important to monitor these processes from a psychological point of view and from a physiotherapy point of view, especially during limb lengthening operations, which are very difficult for the patient.
Where do we treat it?
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