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Acrodysostosis MeSH Supplementary Concept Data 2023


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 Number
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 Preferred
Acrodysostosis 1 with or without hormone resistance Narrower
Peripheral Dysostosis Related
Acrodysostosis 2, with or without hormone resistance Narrower
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