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Seckel's syndrome

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An intrauterine form of dwarfism characterized by proportional short stature, reduced circumference of the cranium, a characteristic bill-like protrusion of the central area of the face with microcephaly, prominent sometimes beaked nose, large ears, sparse hair, joint defects, clubfoot, trident hands, absence of some teeth, cloacalike malformation of genitourinary tract and rectum, mental retardation and sweet disposition. A small, simplified cerebrum resembles the chimpanzee brain (pongidoid microcephaly. There is a reduction in the number of blood cells. Both sexes affected; present at birth. Inheritance is autosomal recessive. There has been described a case in which all the features of the syndrome were present, but not the dwarfism. This could be an incomplete form or a variant of the syndrome.

Seckel in 1960 described the disease picture on the basis of two cases he had studied in Chicago, as well as 13 cases of nanocephalic dwarfs reported in the literature over a 200-year period. Amongst the affected persons whom Seckel discussed was Caroline Crachami, whose skeleton now reposes in the Hunterian Museum of the Royal College of Surgeons, London. Crachami, an exhibitionist known as the "Sicilian Fairy" measured 49,5 cm when she died in 1824 at the age of nine years.

The term "bird headed dwarf" had initially been introduced by Rudolf Virchow, in the context of proportionate dwarfism with low birth weight, mental retardation, a pointed nose, micrognathia and other variable stigmata. Seckel's monograph generated renewed interest and articles, which followed usually, employed some form of the designation "Seckel's bird headed dwarfism".

In 1967 McKusick and colleagues documented the condition in 3 out of 11 siblings and suggested that inheritance was probably autosomal recessive. It is likely that the disorder is heterogeneous.

Harper’s syndrome is a variant of the Seckel syndrome.


  • R. Virchow:
    Zwergenkind. Zeitschrift für Ethnologie, Berlin, 1882, 14: 215. Vorstellung der Knaben Dobos Janos.
    Berliner klinische Wochenschrift, 1892, 29: 517.
  • T. P. Mann, A. Russel:
    A study of microcephalic midget of extreme type.
    Proceedings of the Royal Society of Medicine, London, 1959, 52: 1024-1029.
  • H. P. G. Seckel:
    Bird-headed Dwarfs: Studies in Developmental Anthropology Including Human Proportions.
    S. Karger, Basel-New York, 1960 [Springfield, C. C. Thomas, 1960.]
  • R. G. Harper:
    Bird-headed dwarfs (Seckel's syndrome). A familial pattern of development, dental, skeletal, genital, and central nervous system anomalies.
    Journal of Pediatrics, St. Louis, 1967, 70: 799-804.
  • V. A. McKusick, M. Mahloudji, M. H. Abboptt, R. Lindenberg, D. Kepas:
    Seckel's bird-headed dwarfism.
    New England Journal of Medicine, Boston, 1967, 277: 279-286.
  • Ftrank Majewski, T. Goecke:
    Studies of microcephalic primordial dwarfism. 1: Approach to a delineation of the Seckel syndrome.
    American Journal of Medical Genetics, New York, 1982, 12: 7-21.
  • J. Bondeson:
    Caroline Crachami, the Sicilian Fairy: a case of bird-headed dwarfism.
    American Journal of Medical Genetics, New York, 1992, 44: 210-219.

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