Acrodysostosis

Overview

Type of disease: Rare conditions

Acrodysostosis refers to a group of genetic disorders of bone growth. Common signs and symptoms, include very short fingers and toes, underdeveloped facial bones, small nose, and short stature. Many individuals with acrodysostosis have developmental delays and intellectual disability. One form of acrodysostosis, called acrodysostosis with hormonal resistance, is caused by a mutation in the PRKAR1A gene. The underlying cause for other forms of acrodysostosis is unknown. Acrodysostosis appears to have an autosomal dominant inheritance pattern, with most reported cases occurring for the first time in a family due to a new mutation. Inheritance from an affected parent has been described as well. Acrodysostosis can be difficult to distinguish from pseudohypoparathyroidism and pseudopseudohypoparathyroidism. Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI.

Connect. Empower. Inspire.