acromicric dysplasia

Term ID

DOID:0111243

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. (2)

References

• GARD:7
• MESH:C535662
• OMIM:102370
• ORDO:969
• SNOMEDCT_US_2023_03_01:254090007
• UMLS_CUI:C0265287

Ontology

Human Disease   ( DOID:0111243 )