Synonyms: Maroteaux-Verloes-Stanescu syndrome | Regressive metaphyseal dysplasia
A rare form of metaphyseal dysplasia characterized by short stature rhizomelic micromelia and a mild varus deformity of the legs evident from the first months of life that is associated with radiological features of severe metaphyseal changes (irregularities widening and marginal blurring) in long bones most prominent in proximal femurs and generalized osteopenia and that usually spontaneously resolves by the age of three years. Severe autosomal dominant and milder recessive variants have been observed.
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 October 2023.
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