label: Acrodysostosis 1 with or without hormone resistance
label_lc: acrodysostosis 1 with or without hormone resistance
description: An autosomal dominant skeletal dysplasia caused by mutation(s) in the PRKAR1A gene, encoding cAMP-dependent protein kinase type I-alpha regulatory subunit. It is characterized by short stature, brachydactyly, and characteristic facial features. Resistance to multiple hormones is a common finding.