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Disease Profile

Proximal symphalangism

Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.


US Estimated

Europe Estimated

Age of onset






Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.


Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.


dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.


recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.


Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.


Not applicable


Other names (AKA)

Strasburger-Hawkins-Eldridge syndrome; Strasburger-Hawkins-Eldridge-Hargrave-McKusick syndrome; Vessel’s syndrome;


Congenital and Genetic Diseases; Musculoskeletal Diseases


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 mutation in the NOG gene or GDF5 gene.[1][2]


This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
80%-99% of people have these symptoms
Camptodactyly of finger
Permanent flexion of the finger
Proximal symphalangism
Proximal symphalangism of hands
Fused innermost hinge joints
Synostosis of carpal bones
Fusion of wrist bones
Tarsal synostosis
Fused ankle bones
30%-79% of people have these symptoms
Short fingers or toes
Carpal synostosis
Conductive hearing impairment
Conductive deafness
Conductive hearing loss

[ more ]

Elbow ankylosis
Elbow dislocation
Dislocations of the elbows
Elbow dislocations

[ more ]

Metacarpophalangeal synostosis
Fused long bone of hand with innermost finger bone
Sensorineural hearing impairment
Stapes ankylosis
5%-29% of people have these symptoms
Aplasia/Hypoplasia of the middle phalanges of the hand
Absent/small middle finger bone of the hand
Absent/underdeveloped middle finger bone of the hand

[ more ]

Aplasia/Hypoplasia of the middle phalanges of the toes
Absent/small middle bones of toe
Absent/underdeveloped middle bones of toe

[ more ]

Clinodactyly of the 5th finger
Permanent curving of the pinkie finger
Distal symphalangism of hands
Fused outermost bones of hand
Finger syndactyly
Squint eyes

[ more ]

Percent of people who have these symptoms is not available through HPO
Abnormal finger flexion creases
Autosomal dominant inheritance
Pes planus
Flat feet
Flat foot

[ more ]

Proximal/middle symphalangism of 5th finger
Fused innermost and middle bones of little finger
Fused innermost and middle bones of pinkie finger
Fused innermost and middle bones of pinky finger

[ more ]

Short 2nd finger
Short index finger
Short index fingers

[ more ]

Short 5th metacarpal
Shortened 5th long bone of hand


Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.


    Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

    Organizations Supporting this Disease

      Learn more

      These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

      In-Depth Information

      • 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. 
        Proximal symphalangism 1A
        Proximal symphalangism 1B
      • 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.


        1. Proximal symphalangism. Orphanet. March 2006; https://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; https://www.ncbi.nlm.nih.gov/pubmed/17994231. Accessed 5/6/2011.