Acrodysostosis [Supplementary Concept]
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 introduced: June 25, 2010
MeSH Unique ID: C538179
Heading Mapped to:
Entry Terms:
- Peripheral dysostosis-nasal hypoplasia-mental retardation (PNM) syndrome
- Acrodysplasia
- Nasal hypoplasia-peripheral dysostosis-mental retardation syndrome
- Arkless-Graham syndrome
- Maroteaux-Malamut syndrome
- Acrodysostosis 1 with or without hormone resistance
- ACRDYS1
- Peripheral Dysostosis
- Acrodysostosis 2, with or without hormone resistance
- ACRDYS2