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.
MONDO:0018230
skeletal dysplasia
is_a
MAD
related
Maroteaux Verloes Stanescu syndrome
related
Maroteaux-Verloes-Stanescu syndrome
exact
early-onset regressive form of metaphyseal dysplasia
related
regressive metaphyseal dysplasia
exact