Learn About Proximal Symphalangism

What is the definition of Proximal Symphalangism?
Proximal symphalangism, which is also called Cushing's symphalangism, is a rare genetic condition characterized by the fusion of the proximal joints in the hands and feet. These individuals usually have straight fingers and are unable to make a fist. Other joints may also be affected, leading to stiff joints in the elbows, ankles and wrists. Hearing loss due to the fusion of the auditory ossicles (bones in the middle ear) is also a characteristic feature. This condition is inherited in an autosomal dominant pattern and is caused by a genetic change in the NOG gene or GDF5 gene.
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What are the alternative names for Proximal Symphalangism?
  • Proximal symphalangism
  • Cushing's symphalangism
  • Hereditary absence of proximal interphalangeal joints
  • Proximal symphalangism
  • Strasburger-Hawkins-Eldridge syndrome
  • Strasburger-Hawkins-Eldridge-Hargrave-McKusick syndrome
  • Symphalangism, proximal, 1A (subtype)
  • Symphalangism, proximal, 1B (subtype)
  • Vessel’s syndrome
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Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center

What are the Latest Advances for Proximal Symphalangism?

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