- Arthur K. Strasburger
- Elliot S. Vessel
- Harvey Williams Cushing
- Margaret R. Hawkins
- Robert L. Hargrave
- Victor Almon McKusick
A syndrome of symphalangism with fusion of the midphalangeal joints, fusion of elbow and carpal and tarsal bones; absence of the normal articular folds. One of the most characteristic features is conductive deafness, due to fusion of the ossicles of the middle ear. There is limitation of motion of the elbow, wrist, and ankle joints; abnormal gait, brachydactyly, cutaneous syndactyly, peculiar facies marked by hypoplasia of the alae nasi, long and narrow face, thin upper lip, and broad nasal bridge; and occasional strabismus. Inheritance is autosomal dominant with variable expression.
First described in 1900 by the German radiologist Georg Joachimsthal (1863-1914). In 1906 Cushing encountered a woman with a brain tumour and rigid fingers at the Johns Hopkins Hospital and during the next 10 years, in association with professor Samuel Growe, the head of otolaryngology, he accumulated information concerning family members with the digital anomalies. In his publication Cushing described an autosomal dominant mode of transmission through 7 generations and introduced the term "symphalangism". The affected family was restudied 50 years later by Strasburger and colleagues and in a publication in 1965, the occasional syndromic component of conductive deafness was mentioned. The condition was traced back to William Brown, a Scottish immigrant who arrived in Virginia in the 1740s.
- G. Joachimsthal:
Die angeborenen Verbildungen der oberen Extremitäten.
- H. W. Cushing:
Hereditary anchylosis of proximal phalangeal joints (symphalangism).
Genetics, Austin, Texas, 1916, 1: 90-106.
- E. S. Vessel:
Symphalangism, strabism and hearing loss in mother and daughter.
New England Journal of Medicine, Boston, 1960, 263: 839-842. li>A. K. Strasburger, M. R. Hawkins, R. Eldridge, R. L. Hargrave, V. A. McKusick:
Symphalangism: genetic and clinical aspects.
Bulletin of the Johns Hopkins Hospital, Baltimore, 1965, 117: 108-127.
- P. Maroteaux, J. P. Bouvet, M. L. Briard:
La maladie des synostose multiples.
La presse médicale, Paris, 1972, 1: 3041-3047.