Diastrophic Dysplasia (DTD)
Diastrophic Dysplasia (DTD)
OMIM number: 222600
Comments closing date: 30/06/2025
Diastrophic dysplasia is a disorder characterised
by issues in bone and cartilage development
ultimately leading to skeletal deformities and
constant joint pain. Those affected will usually
present with a number of orthopaedic issues as the
affected areas are not usually localised to one
area, such as scoliosis (curved spine), hip
dysplasia (abnormal hip development causing
dislocation to commonly occur), and hand and feet
abnormalities. Patients usually have a short
stature, malformed ears, sometimes accompanied
by deafness, and can sometimes be born with a
cleft palate.
Review date: 28 May 2027
