MeSH Browser

MeSH Supplementary: Acromicric dysplasia
Unique ID: C535662
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C535662
Entry Term(s): ACMICD; Acromicria; Acromicric skeletal dysplasia; Geleophysic dwarfism; Geleophysic dysplasia
Registry Number: 0
Heading Mapped to: *Bone Diseases, Developmental; *Limb Deformities, Congenital
Frequency: 39
Note: An autosomal dominant disorder characterized by severe short stature, short hands and feet, joint limitations, and skin thickening. Radiologic features include delayed bone age, cone-shaped EPIPHYSES, shortened long tubular bones, and ovoid vertebral bodies. Affected individuals have distinct facial features, including round face, well-defined eyebrows, long eyelashes, bulbous nose with anteverted nostrils, long and prominent philtrum, and thick lips with a small mouth. Mutations in the FBN1 gene have been identified. OMIM: 102370
Date of Entry: 2010/06/25
Revision Date: 2022/02/16

Acromicric dysplasia MeSH Supplementary Concept Data 2024