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Odontochondrodysplasia
Disease definition
Odontochondrodysplasia, also called Goldblatt syndrome, is a very rare syndrome associating chondrodysplasia with dentinogenesis imperfecta.
ORPHA:166272
Summary
Epidemiology
To date, 11 patients have been reported.
Clinical description
Chondrodysplasia is characterized by mesomelic limb shortening, joint laxity, platyspondyly with coronal clefts, brachydactyly and coxa valga. The affected patients have no intellectual deficit.
Etiology
The etiology is unknown.
Genetic counseling
The condition is most probably hereditary, transmitted as an autosomal recessive trait.
Additional information
Further information on this disease
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