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acromicric dysplasia
Summary
- Synonym
-
- 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.
- Super Class
- osteochondrodysplasia
External Links
- Disease Ontology
- DOID:0111243
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- OMIM
- GARD
