Diastrophic Dysplasia (AKA Diastrophic dwarfism or DTD) is a rare skeletal disorder (osteochondrodysplasia), first defined by Maroteaux and Lamy in 1960. Before this is was usually diagnosed as "achondroplasia with clubfoot". It occurs in about 1 out of every 100,000 births, except in Finland, where it occurs in about 3 out of every 100,000 births. It is inherited from an autosomal recessive gene.

DTD always includes short-limbed dwarfism (achondroplasia), and may also include cleft palate, clubfeet, cauliflower ears (the ears swell shortly after birth, but usually it goes down in the next couple weeks), hitchhiker's thumb, and short broad fingers. There may be respiratory problems (laryngomalacia) during the first few weeks of life, leading to a higher than average infant mortality rate, but other than that life expectation is normal. It is also accompanied by progressive skeletal dysplasia, in which the cartilage in the joints is destroyed and replaced by fibrous tissue or bone.

A curious noder asked what the treatment for this condition might be. Well, it can't be cured, and there's not much to it that both requires treatment and is present in all cases. Check with your occupational therapist and orthopedist as to the best hardware and physical therapy to alleviate and prevent discomfort. (Which is the long way of saying 'I don't know, and haven't been able to find out'). Dwarfism is not treated, and the accompanying deformities are treated as needed. Check out those nodes for details.


Partial references:

http://www.ncbi.nlm.nih.gov/disease/DTD.html
http://matweb.hcuge.ch/Selected_images/Developmental_genetic_diseases/diastrophic_dysplasia.htm (pictures)
http://www.med.jhu.edu/Greenberg.Center/diastrop.htm
http://www.thefetus.net/sections/articles/Musculoskeletal/Diastrophic_dysplasia_Babcook_7564.html
http://www.thefetus.net/sections/articles/Musculoskeletal/Diastrophic_dysplasia_Luis_Goncalves.html
http://gait.aidi.udel.edu/res695/homepage/pd_ortho/educate/clincase/didwarf.htm
http://www.lpaonline.org/resources_dwarftypes.html

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