Acromesomelic dysplasia

Acromesomelic dysplasia
Other namesAcromesomelic dwarfism [1]
SpecialtyOrthopedic

Acromesomelic dysplasia is a rare skeletal disorder that causes abnormal bone and cartilage development, leading to shortening of the forearms, lower legs, hands, feet, fingers, and toes.[2] Five different genetic mutations have been implicated in the disorder. Treatment is individualized but is generally aimed at palliating symptoms, for example, treatment of kyphosis and lumbar hyperlordosis.[3]

  1. ^ "Acromesomelic dysplasia". Genetic and Rare Diseases Information Center (GARD) – an NCATS Program. U.S. National Institutes of Health. Archived from the original on 11 October 2020. Retrieved 14 March 2019.
  2. ^ Nyberg DA, ed. (2003). Diagnostic imaging of fetal anomalies (2nd ed.). Philadelphia, Pa. [u.a.]: Lippincott Williams & Wilkins. p. 683. ISBN 978-0-7817-3211-6.
  3. ^ "Acromesomelic Dysplasia". NORD (National Organization for Rare Disorders). Retrieved 2015-09-19.