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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



What is Cushing's symphalangism?

Is genetic testing available for Cushing's symphalangism?


What is Cushing's symphalangism?

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

Is genetic testing available for Cushing's symphalangism?

GeneTests lists the names of laboratories that are performing genetic testing for Cushing's symphalangism. To view the contact information for the clinical laboratories conducting testing, click here.

Please note:  Most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, if you are interested in learning more, you will need to work with a health care provider or a genetics professional.  Below, we provide a list of online resources that can assist you in locating a genetics professional near you.
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.