Term Name: | acromicric dysplasia |
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Synonyms: | ACMICD, acromicric skeletal dysplasia |
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. |
Ontology: | Human Disease [DOID:0111243] ( DOID:0111243 ) |