Sæthre-Chotzen syndrome

A congenital and relatively mild form of acrocephalosyndactyly characterized by hypertelorism, cranial synostosis, asymmetry of the skull and orbits (plagiocephaly), partial syndactyly of digits 1-2 or 3-4 and failure of descent of one or both testes. Mild to moderate mental retardation. Other features can be strabismus, low-set ears, defect of the lacrimal ducts, highly-arched palate, beaked nose, mild hearing loss and bending of the fingers medially or laterally. Chotzen’s syndrome is a form with acrobrachycephaly. Can be associated with renal failure.

The syndrome is transmitted as an autosomal dominant trait. According to some authorities (McKusick), the syndrome is classified as acrocephalosyndactyly III; according to others (Spranger, Langer, and Wiedemann), as acrocephalosyndactyly II.

In 1931 Sæthre documented a mother aged 32 years, and her two daughters, who had mild brachycephaly and asymmetry of the skull, with partial soft tissue syndactyly of the second and third fingers. In the following year Fritz Chotzen reported a father and two sons with similar abnormalities.
In 1970 Bartsocas and colleagues documented an affected Lithuania family in the USA, in which 10 persons in 3 generations had the condition which Sæthre had described.

• H. Sæthre:
  Ein Beitrag zum Turmschädelproblem (Pathogenese, Erblichkeit und Symptomatologie).
  Deutsche Zeitschrift für Nervenheilkunde, 193, 117: 533.
• H. Sæthre:
  Ueber den Turmschädel, seine Erblichkeit, Pathogenes und neuropsychiatrischen Symptome.
  Acta psychiatrica et neurologica, Copenhagen, 1931, 6: 405-427.
• F. Chotzen:
  Eine eigenartige familiäre Entwicklungsstörung (Akrocephalosyndaktylie, Dysostosis craniofacialis und Hypertelorismus).
  Monatsschrift Kinderheilkunde, Berlin, 1932, 55: 97-122.
• C. S. Bartsocas, A. L. Weber, J. D. Crawford:
  Acrocephalosyndactyly type 3: Chotzen's syndrome.
  The Journal of Pediatrics, St. Louis, 1970, 77: 267-272.
• V. A. McKusick:
  Mendelian Inheritance in Man. 5th edition.
  Catalogs of Autosomal Dominant, Autosomal Recessive and X-Linked Phenotypes.
  Baltimore, The Johns Hopkins University Press, 1978: 8.
• J. W. Spranger, L. O. Langer, H. R. Wiedemann:
  Bone dysplasia. Philadelphia, Saunders, 1974: 261.