Proximal symphalangism
Alternate names
Strasburger-Hawkins-Eldridge syndrome; Strasburger-Hawkins-Eldridge-Hargrave-McKusick syndrome; Vessel’s syndrome; Hereditary absence of proximal interphalangeal joints; Proximal symphalangism; Cushing's symphalangism ; Symphalangism, proximal, 1A (subtype); Symphalangism, proximal, 1B (subtype)
Definition
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.
Cause
It is caused by a mutation in the NOG gene or GDF5 gene.
Inheritance
This condition is inherited in an autosomal dominant pattern.
Signs and symptoms
- 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.
Clinical presentation
For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed.
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
- Brachydactyly(Short fingers or toes)
- Carpal synostosis
- Conductive hearing impairment(Conductive deafness)
- Elbow ankylosis
- Elbow dislocation(Dislocations of the elbows)
- 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)
- Aplasia/Hypoplasia of the middle phalanges of the toes(Absent/small middle bones of toe)
- Clinodactyly of the 5th finger(Permanent curving of the pinkie finger)
- Distal symphalangism of hands(Fused outermost bones of hand)
- Finger syndactyly
- Strabismus
- Cross-eyed
Diagnosis
Treatment
NIH genetic and rare disease info
Proximal symphalangism is a rare disease.
| Rare and genetic diseases | ||||||
|---|---|---|---|---|---|---|
|
Rare diseases - Proximal symphalangism
|
Resources
| Additional resources | ||
|---|---|---|
|
Proximal symphalangism
|
 | This Proximal symphalangism article is a stub. You can help WikiMD by expanding the page. |
<html><link rel="canonical" href="https://wikimd.com/wiki/Proximal+symphalangism"> <meta name=”viewport” content=”width=device-width, initial-scale=1″> </html>
Medical Disclaimer: WikiMD is for informational purposes only and is not a substitute for professional medical advice. Content may be inaccurate or outdated and should not be used for diagnosis or treatment. Always consult your healthcare provider for medical decisions. Verify information with trusted sources such as CDC.gov and NIH.gov. By using this site, you agree that WikiMD is not liable for any outcomes related to its content. See full disclaimer.
Credits:Most images are courtesy of Wikimedia commons, and templates, categories Wikipedia, licensed under CC BY SA or similar.
Translate this page: - East Asian
中文,
日本,
한국어,
South Asian
हिन्दी,
தமிழ்,
తెలుగు,
Urdu,
ಕನ್ನಡ,
Southeast Asian
Indonesian,
Vietnamese,
Thai,
မြန်မာဘာသာ,
বাংলা
European
español,
Deutsch,
français,
Greek,
português do Brasil,
polski,
română,
русский,
Nederlands,
norsk,
svenska,
suomi,
Italian
Middle Eastern & African
عربى,
Turkish,
Persian,
Hebrew,
Afrikaans,
isiZulu,
Kiswahili,
Other
Bulgarian,
Hungarian,
Czech,
Swedish,
മലയാളം,
मराठी,
ਪੰਜਾਬੀ,
ગુજરાતી,
Portuguese,
Ukrainian
