Term Name: acromicric dysplasia
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 )

Relationships
is a type of: osteochondrodysplasia