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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Cushing's symphalangism


Other Names for this Disease
  • Hereditary absence of proximal interphalangeal joints
  • Proximal symphalangism
  • Strasburger-Hawkins-Eldridge syndrome
  • Strasburger-Hawkins-Eldridge-Hargrave-McKusick syndrome
  • Vessel’s syndrome
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Overview


Cushing's symphalangism, which is also called proximal 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 mutation in the NOG gene or GDF5 gene.[1][2]
Last updated: 5/6/2011

References

  1. Proximal symphalangism. Orphanet. March 2006; http://www.orpha.net/consor/cgi-bin//OC_Exp.php?lng=EN&Expert=3250. Accessed 5/6/2011.
  2. Plett SK, Berdon WE, Cowles RA, Oklu R, Campbell JB. Cushing proximal symphalangism and the NOG and GDF5 genes. Pediatr Radiol. 2008; http://www.ncbi.nlm.nih.gov/pubmed/17994231. Accessed 5/6/2011.
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In Depth Information

  • The Online Mendelian Inheritance in Man (OMIM) is an catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Cushing's symphalangism. Click on the link to view a sample search on this topic.