Diastrophic Dysplasia
What are the symptoms?
The ways and severity that individuals with DTD are affected vary. The features of DTD include:
- shortening of the limbs but with a normal sized skull;
- small chest;
- protuberant abdomen;
- cleft palate in about thirty-three per cent of cases (see entry, Cleft Lip and/or Palate);
- swelling of the ears giving a 'cauliflower' appearance;
- joint contractures;
- shortening of the bones of the hands including hitchhiker thumbs (short bones cause the thumb to take up the typical hitchhiker position);
- club feet, varying from mild to severe due to bone abnormalities;
- progressive Scoliosis (sideways curvature of the spine), lumbar lordosis (forward curvature of the lower spine) and cervical kyphosis (outward curvature of the upper spine).
Background
| How is it diagnosed? 
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