Proximal symphalangism

Proximal symphalangism is a very rare, genetic bone disorder characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and conductive hearing loss in some patients.

Abnormality of the nose

An abnormality of the nose.


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PMID (PMCID)
2080998
 MIXED_SAMPLE Adult
An autosomal dominant facio-audio symphalangism syndrome with Klippel-Feil anomaly: a new variant of multiple synostoses.
Pfeiffer RA, Rott HD, Angerstein W.
Genet Couns. 1990;1(2):133-40.
A family is reported in which at least the propositus, his mother and his grandfather suffer from proximal symphalangism, conductive hearing loss due to stapes fixation, Klippel-Feil anomaly and abnormality of the nose with lack of alar flare.