J Genet Med.  2010 Dec;7(2):145-150.

Acrodysostosis Associated with Symptomatic Cervical Spine Stenosis

  • 1Department of Medical Genetics, Ajou University School of Medicine, Suwon, Korea. genetics@kornet.net
  • 2Department of Radiology, Ajou University School of Medicine, Suwon, Korea.
  • 3Department of Neurosurgery, Ajou University School of Medicine, Suwon, Korea.


Acrodysostosis is an extremely rare disorder characterized by short fingers and toes with peripheral dysostosis, nasal hypoplasia, and mental retardation. We report a 16-year-old Korean boy with acrodysostosis who had characteristic clinical features and cervical spine stenosis manifested by neurologic symptoms. On presentation, he complained of difficulty in raising his arms, and suffered from intermittent pain and weakness in both upper extremities. He had short stature and dysmorphic facial features, including a broad, depressed nasal bridge, small, upturned nose, bilateral epicanthal folds, and mild hypertelorism. Moderate mental retardation and sensorineural hearing loss in both ears were also present. Radiological findings included broad, short metacarpals and phalanges with cone-shaped epiphyses, bilateral Madelung deformities, hypertrophied first metatarsals, and thickening of the calvarium. Magnetic resonance imaging findings included stenosis of the cervical spine, platybasia with compression into the cervicomedullary junction, and downward displacement of the cerebellar tonsils. Here, we report a case of acrodysostosis with symptoms and signs of cervical spinal stenosis first in Korea. If it is diagnosed in the early stages, possible life-threatening complications, including spinal canal stenosis, can be managed properly and permanent neurologic sequelae might be avoided. Therefore, it is important to consider acrodysostosis in the differential diagnosis of peripheral dysostosis.


Acrodysostosis; Peripheral dysostosis; Spinal canal stenosis; Madelung deformity; Brachymelia
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