acromicric dysplasia (DOID:0111243)
Alliance: disease page
Synonyms: ACMICD; acromicric skeletal dysplasia
Alt IDs: OMIM:102370, MESH:C535662, ORDO:969, UMLS_CUI:C0265287
Definition: An osteochondrodysplasia characterized by autosomal dominant inheritance of severe short stature, short hands and feet, joint limitations, mild facial anomalies, skin thickening, and bone abnormalities including delayed bone age, cone-shaped epiphyses, shortened long tubular bones, and ovoid vertebral bodies that has_material_basis_in heterozygous mutation in FBN1 on 15q21.1.