See Also: Diastrophic dysplasia(health)
Diastrophic dwarfism(health)
diastrophic dwarfism(medicine)
Divine Providence Health Center Avera Health(health)
Dells Area Health Center Avera Health(health)
Hegg Memorial Health Center Avera Health(health)
Dysplasia(health)
dysplasia(encyclopedia)
hip dysplasia(medicine)
dysplasia(dictionary)

Diastrophic dysplasia (health)


An inherited skeletal disorder involving significantly 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% of patients. 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.