Synonyms: Chondrodysplasia-dentinogenesis imperfecta-joint laxity syndrome | Goldblatt chondrodysplasia | Goldblatt syndrome | ODCD
A rare primary bone dysplasia characterized by the association of spondylometaphyseal dysplasia generalized joint laxity and dentinogenesis imperfecta. Main skeletal abnormalities comprise short stature narrow chest scoliosis mesomelic limb shortening and brachydactyly. Radiographic features include severe metaphyseal irregularities of the tubular bones platyspondyly with coronal clefts cone-shaped epiphyses of the hands square iliac wings and coxa valga. Additional extraskeletal manifestations like pulmonary hypoplasia cystic renal disease and non-obstructive hydrocephalus have also been reported.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version February 2024
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