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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.
Unknown
Age of onset
Infancy
ICD-10
Q70.9
Inheritance
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.
X-linked
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.
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.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
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;
Categories
Congenital and Genetic Diseases; Musculoskeletal Diseases
Summary
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.
Symptoms
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:
HPO ID
|
|---|---|---|
| 80%-99% of people have these symptoms | ||
| Camptodactyly of finger |
Permanent flexion of the finger
|
0100490 |
| Proximal symphalangism | 0100264 | |
| Proximal symphalangism of hands |
Fused innermost hinge joints
|
0006152 |
| Synostosis of carpal bones |
Fusion of wrist bones
|
0005048 |
| Tarsal synostosis |
Fused ankle bones
|
0008368 |
| 30%-79% of people have these symptoms | ||
|
Short fingers or toes
|
0001156 | |
| Carpal synostosis | 0009702 | |
| Conductive hearing impairment |
Conductive deafness
Conductive hearing loss
[ more ] |
0000405 |
| Elbow ankylosis | 0003070 | |
| Elbow dislocation |
Dislocations of the elbows
Elbow dislocations
[ more ] |
0003042 |
| Metacarpophalangeal synostosis |
Fused long bone of hand with innermost finger bone
|
0005880 |
| Sensorineural hearing impairment | 0000407 | |
| Stapes ankylosis | 0000381 | |
| 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 ] |
0009843 |
| Aplasia/Hypoplasia of the middle phalanges of the toes |
Absent/small middle bones of toe
Absent/underdeveloped middle bones of toe
[ more ] |
0010194 |
| Clinodactyly of the 5th finger |
Permanent curving of the pinkie finger
|
0004209 |
| Distal symphalangism of hands |
Fused outermost bones of hand
|
0001204 |
| Finger |
0006101 | |
|
Cross-eyed
Squint
Squint eyes
[ more ] |
0000486 | |
| Percent of people who have these symptoms is not available through HPO | ||
| Abnormal finger flexion creases | 0006143 | |
| 0000006 | ||
| Pes planus |
Flat feet
Flat foot
[ more ] |
0001763 |
| 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 ] |
0009177 |
| Short 2nd finger |
Short index finger
Short index fingers
[ more ] |
0009536 |
| Short 5th metacarpal |
Shortened 5th long bone of hand
|
0010047 |
Diagnosis
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.
Organizations
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
-
Helping Hands Foundation
P.O. Box 332
Medfield, MA 02052
E-mail: https://www.helpinghandsgroup.org/contact_us.php
Website: https://www.helpinghandsgroup.org/
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.
References
- Proximal symphalangism. Orphanet. March 2006; https://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; https://www.ncbi.nlm.nih.gov/pubmed/17994231. Accessed 5/6/2011.