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The Hunger Project Bolen Report
Ohm Society
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Diastrophic Dysplasia Print E-mail

Dr. Kennedy Diastrophic dysplasia is an inherited skeletal disorder involving short stature (dwarfism). Characteristic features at birth include short birth length with short limbs (short-limbed dwarfism), "hitchhiker thumb," and clubfeet. Palatal malformations such as cleft palate or submucous cleft of the palate are present in 50%. There is swelling of the ears in the first days to weeks of life in 80% of children; the swelling then spontaneously subsides but later the ears have a "cauliflower" appearance. Fingers are short and broad and show ulnar deviation (are inclined away from the thumb). The thumb itself has a hitch-hiker-type appearance. There is increased death rate in infancy due to problems breathing, but thereafter people with diastrophic dysplasia have a normal life span. Orthopedic problems are common. The joints can be dislocated, especially the shoulder, elbows, hips, and patellae (knee caps). Flexion contractures of the knees and shoulders are common.



The information in this article is not meant to be medical advice.�Treatment for a medical condition should come at the recommendation of your personal physician.

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