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 September 2023.
Newly diagnosed with
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
The Chandler Project
The Chandler Project (TCP) provides those affected with achondroplasia, and other forms of skeletal dysplasia (dwarfism), with the latest in pharmaceutical research and surgical advancements.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
For a list of clinical trials in this disease area, please click here.