Acrodysostosis 1

**Semantic type:** Disease or Syndrome

**Definition:** 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.

**Synonyms:** - ACRDYS1