You are using an outdated browser. Please upgrade your browser to improve your experience.

metaphyseal anadysplasia

Disease Summary
Associated Targets (2)
Tchem

2


GARD Rare
Mondo Description 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 Term and Equivalent IDs
MONDO:0015177:  metaphyseal anadysplasia
GARD:0003562: 
MESH:C537351: 
Orphanet:1040: 
SCTID:254085009: 
UMLS:C0432226: