Hallermann-Streiff-François syndrome

A syndrome of multiple congenital abnormalities comprising an abnormally shaped skull, proportionate dwarfism, birdlike facies with beaked nose and hypoplastic mandible, atrophy of the skin, dental anomalies, hypotrichosis, bilateral microphtalmia, mental retardation and congenital cataracts. 

 Hallermann-Streiff-François syndrome

Brachycephaly, frontal bossing, open lambdoidal and longitudinal sutures, and delayed closure of fontanelles are usually associated. Often there are additional ocular features and skeletal abnormalities.

 Hallermann-Streiff-François syndrome

Affects both sexes equally. Etiology unknown. Most cases described have been sporadic, no chromosome abnormalities detected. Possibly autosomal recessive inheritance.

W. Hallermann: Vogelgesicht und Cataracta congenita. Klinische Monatsblätter für Augenheilkunde, Stuttgart, 1948, 113: 315-318.

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In 1948 Hallermann reported the combination of congenital cataracts and a "bird head" in a male aged 25 years. He assumed that this condition was a new entity, although several accounts had, in fact, been published in the early German literature. Two years later Streiff (1950) reported a similar condition in a woman aged 31 years. In 1958 François reviewed the literature, analysed the manifestations of 22 published cases (together with two of his own) and described the phenotypic range in detail. Thereafter the condition was generally known by the double or triple eponym.

François published a definitive account of the disorder in 1983 in which he provided a comprehensive bibliography and mentioned that more than 150 cases had been recognised. In this article he employed the title "Francois dysephalic syndrome".

We thank Patrick Jucker-Kupper, Switzerland, for information submitted.

Wilhelm Hallermann (1901-1975), German ophthalmologist.

Wilhelm Hallermann

After qualifying in medicine at the University of Freiburg in 1936, Hallermann trained in ophthalmology at the Freiburg University Eye Clinic under professor Wegner. In 1945 he was appointed to a senior post in this clinic, and in 1954 became professor of ophthalmology and director of the university eye clinic in Göttingen. He held this tenure until his retirement.

References

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