Spondylometaphyseal dysplasia, Golden type

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Synonyms: X-linked spondylometaphyseal dysplasia

Spondylometaphyseal dysplasia Golden type is a rare primary bone dysplasia disorder characterized by severe short stature coarse facies thoracolumbar kyphoscoliosis and enlarged joints with contractures. Psychomotor delay and intellectual disability may also be associated. Radiographic features include flat vertebral bodies lacy ossification of the metaphyses of long bones and iliac crests and marked sclerosis of the skull base.

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 June 2024

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Clinical Trials

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