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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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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.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.
Last updated: 5/6/2011
- Proximal symphalangism. Orphanet. March 2006; http://www.orpha.net/consor/cgi-bin//OC_Exp.php?lng=EN&Expert=3250. Accessed 5/6/2011.
- 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) database contains genetics resources that discuss Cushing's symphalangism. Click on the link to go to OMIM and review these resources.
- 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.