Diastrophic Dysplasia
How is it treated?
DTD is not a curable condition and treatment will be symptomatic for specific features. It important to maintain joint positioning and mobility as much as possible using physiotherapy and surgical correction for club feet to allow walking. This is often extremely difficult and ideally should be performed by a surgeon with experience of other children with diastrophic dysplasia. This is true of any surgical intervention in children with diastrophic dysplasia. Monitoring of abnormalities of the bones of the limbs and particularly of the spine is important since surgical intervention may be necessary. Progressive abnormality of the bones of the spine in the neck is an important complication and should be looked for specifically. This may also require surgical treatment. Surgical intervention to release joint contracture is not usually recommended since these tend to recur.
A range of support for families, based on the practical and psychological effects of being of short stature at school and in the wider community, is available. Families can obtain information about aids to ameliorate difficulties in access and operation of equipment from local and national statutory and support organisations.
How is it diagnosed?
| Inheritance patterns and prenatal diagnosis ![]()