Metaphyseal anadysplasia

Metaphyseal anadysplasia is a very 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.

Also known as: Maroteaux-Verloes-Stanescu syndrome, regressive metaphyseal dysplasia, MAD, Maroteaux Verloes Stanescu syndrome, early-onset regressive form of metaphyseal dysplasia

0 clinical trials for this condition and its sub-types, 0 tagged with Metaphyseal anadysplasia itself.