Other Names for this Disease
- Strasburger-Hawkins-Eldridge syndrome
- Strasburger-Hawkins-Eldridge-Hargrave-McKusick syndrome
- Vessel’s syndrome
- Hereditary absence of proximal interphalangeal joints
- Proximal symphalangism
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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.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.
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.
On this page
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a 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.
The Online Mendelian Inheritance in Man (OMIM)
Online Mendelian Inheritance in Man (OMIM)
- 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 Proximal symphalangism. Click on the link to view a sample search on this topic.