Acrodysostosis

Disease Overview

Acrodysostosis refers to a group of genetic disorders of bone growth. Common signs and symptoms include very short fingers and toes, underdeveloped facial bones, a small nose, and short stature. Many individuals with acrodysostosis have developmental delays and intellectual disability.[5504][12503][12504] Individuals with acrodysostosis additionally may have hormone resistance, which means that the body does not respond to the certain hormones. There are two types of this disorder, characterized by the presence or absence of hormone resistance and the underlying genetic cause. Type 1 is caused by mutations in the PRKAR1A gene and may be associated with hormone resistance, whereas type 2 is caused by mutations in the PDE4D gene and is typically not associated with hormone resistance.[12504] Both types are inherited in an autosomal dominant manner, with most reported cases occurring for the first time in a family due to a new mutation.[5504][12503][12504] Acrodysostosis can be difficult to distinguish from pseudohypoparathyroidism and pseudopseudohypoparathyroidism.[5504] While there is no cure for acrodysostosis, treatment is directed toward the specific symptoms in each individual and may require the coordinated efforts of a team of specialists.[12503]

Synonyms

• Arkless-Graham syndrome
• Maroteaux-Malamut syndrome
• Acrodysplasia
• Nasal hypoplasia-peripheral dysostosis-intellectual disability syndrome
• Peripheral dysostosis-nasal hypoplasia-intellectual disability (PNM) syndrome