- A dictionary of medical eponyms

Opitz' trigonocephaly syndrome

Alternative eponyms

  • Opitz-Trigozephalie-Syndrom (German)
  • Opitz-Johnson-McCreadie-Smith syndrome

Related people

A dysmorphy syndrome with trigonocephaly as the most conspiccuous feature.

Description

Trigonocephaly is the most conspiccuous features in the long list of abnormalities associated with this rare and poorly defined dysmorphy syndrome. This means the head of an affected individual is triangular shaped. Other features include microcephaly, peculiar facies (broad nasal ridge, short nose with a broad root, long philtrum, micrognathia, cowlick, low-set and posteriorly rotated malformed ears, epicanthus, upward slanting palpebral fissures, wide mouth), short neck, attached frenulum, thick anterior alveolar ridges of the palate, polydactyly, syndactyly, bridged palmar creases, short limbs, ulnar deviation of the fingers, varus or equino-varus deformities, joint dislocations and/or contractures, strabismus, cryptorchism, prominent clitoris, neonatal loose skin, hemangiomas, deep sacral dimple, and heart defect. The mortality rate during the first year of life is high. Inheritance is autosomal recessive.

“C” is the first letter of the surname of the affected patients first described, hence the synonym C syndrome.

Bibliography

  • J. M. Opitz, R. C. Johnson, S. R. McCreadie, D. W. Smith:
    The C syndrome of multiple congenital anomalies.
    Birth Defects Original Article Series, New York, 1969, 5(2): 161–166.
  • M. Preus, W. J. Alexander, F. C. Fraser:
    The C syndrome.
    Birth Defects Original Article Series, New York, 1975, 10(2): 58–62.
  • F. Oberklaid, D. M. Danks:
    The Opitz trigonocephaly syndrome: a case report.
    American Journal of Diseases of Children, Chicago, 1975, 129: 1348–1349.
  • R. M. Antley, D. S. Hwang, W. Theopold, R. J. Gorlin, T. Steeper, D. Pitt, D. M. Danks, E. McPherson, H. Bartels, H.-R. Wiedemann, J. M. Opitz:
    Further delineation of the C (trigonocephaly) syndrome.
    American Journal of Medical Genetics, New York, 1981, 9: 147–163.

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