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symphalangism proximal syndrome
Pathology:
- conductive hearing loss due to fusion of the stapes to the petrous part of the temporal bone
Genetics:
- associated with defects in NOG gene
- associated with defects in GDF5 gene
Clinical manifestations:
1) hereditary absence of proximal interphalangeal joints (Cushing symphalangism) - severity diminishes towards radial side
2) distal intrphalangeal joints are less frequently involved
3) metacarpophalangeal joints are rarely affected
4) carpal bone malformation & fusion are common
5) in the lower extremities, tarsal bone coalition is common
6) conductive hearing loss
General
genetic syndrome (multisystem disorder)
developmental disorder
Database Correlations
OMIM 185800
References
OMIM :accession 185800