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. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version September 2024
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Odontochondrodysplasia?
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Advocacy Organizations
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
The Chandler Project
The Chandler Project brings awareness and shines a light on transformative research surrounding achondroplasia and other skeletal dysplasias by offering support to a global community and network of patients, parents, and caregivers seeking information on scientific discoveries, pharmaceutical advancements and surgical treatment options.
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Clinical Trials
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