Acromesomelic dysplasia
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]
| Acromesomelic dysplasia | |
|---|---|
| Other names | Acromesomelic dwarfism [1] |
| Specialty | Orthopedic |
References
- "Acromesomelic dysplasia | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 14 March 2019.
- Nyberg, David A, ed. (2003). Diagnostic imaging of fetal anomalies (2nd ed.). Philadelphia, Pa. [u.a.]: Lippincott Williams & Wilkins. p. 683. ISBN 9780781732116.
- "Acromesomelic Dysplasia - NORD (National Organization for Rare Disorders)". Retrieved 2015-09-19.
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