Human genes for acromicric dysplasia
Acromicric dysplasia [DOID:0111243]
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.
Synonyms: acromicric dysplasia, acromicric dysplasias, DOID:0111243, ACMICD, acromicric skeletal dysplasia ...