Congenital isolated or syndromic osteodystrophies
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.
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.