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.
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Resources
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Proximal symphalangism
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