MeSH Browser

MeSH Supplementary: Acrodysostosis
Unique ID: C538179
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C538179
Entry Term(s): ACRDYS1; ACRDYS2; Acrodysostosis 1 with or without hormone resistance; Acrodysostosis 2, with or without hormone resistance; Acrodysplasia; Arkless-Graham syndrome; Maroteaux-Malamut syndrome; Nasal hypoplasia-peripheral dysostosis-mental retardation syndrome; Peripheral Dysostosis; Peripheral dysostosis-nasal hypoplasia-mental retardation (PNM) syndrome
Registry Numbers: 0
Heading Mapped to: *Dysostoses; *Intellectual Disability; *Osteochondrodysplasias
Frequency: 55
Note: ACRDYS1 is a hereditary autosomal dominant form of skeletal dysplasia characterized by short stature, severe BRACHYDACTYLY, facial dysostosis, and nasal hypoplasia. Affected individuals often have advanced bone age and OBESITY. Laboratory studies show resistance to multiple hormones, including PARATHYROID HORMONE; THYOTROPIN; CALCITONIN; GROWTH HORMONE-RELEASING HORMONE, and GONADOTROPIN in some patients. Mutations in the PRKAR1A gene have been identified. OMIM: 101800. ACRDYS2 is autosomal dominant and is characterized by brachydactyly, facial dysostosis, and SPINAL STENOSIS, as well as hormone resistance and INTELLECTUAL DISABILITY. It is caused by mutations in the PDE4D gene. OMIM: 614613
Date of Entry: 2010/06/25
Revision Date: 2019/03/25

Acrodysostosis MeSH Supplementary Concept Data 2025