Hallermann-Streiff-François syndrome

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A syndrome of multiple congenital abnormalities comprising an abnormally shaped skull, proportionate dwarfism, birdlike facies, atrophy of the skin, bilateral microphtalmia, mental retardation and congenital cataracts.

Description

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. 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.

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

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.

Bibliography

  • C. Audry:
    Variété singulière d’alopécie congenitale. Alopécie suturale.
    Annales de dermatologie et de syphilographie, Paris, 1893, 4: 899-900.
  • W. Hallermann:
    Vogelgesicht und Cataracta congenita.
    Klinische Monatsblätter für Augenheilkunde, Stuttgart, 1948, 113: 315-318.
  • Helga Fremerey-Dohna:
    "Dyskephalo-Dermato-Phakie", ein neues Bild multipler Abartung.
    Medical thesis, Bonn 1951.
  • E. B. Streiff:
    Dysmorphie mandibulo-faciale (tête d’oiseau) et alterations oculaires.
    Ophthalmologica, Basel, 1950, 120: 79-83.
  • O. Ullrich & H. Fremerey-Dohna:
    Dyskephalie mit Cataracta congenita und Hypotrichose als typischer Merkmalskomplex.
    Ophtalmologica, Basel, 1953, 125: 73-90; 144-154.
  • J. François:
    Un nouveau syndrome: dyscéphalie avec tête d’oiseau et anomalies dentaires, nanisme, hypotrichose, atrophie cutanée, microphtalmie, et cataracte congénitale.
    Bulletin de la Société belge d'ophtalmologie, 1957, 117: 569-597. A new syndrome: dyscephalia with bird face and dental anomalies, nanism, hypotrichosis, cutaneous atrophy, microphthalmia and congenital cataract.
    Archives of ophthalmology, Chicago, 1958, 60: 842. François’ dyscephalic syndrome.
    Birth Defects Original Article Series, New York, 1982, 18(6): 595-619. François' dyscephalic syndrome. Developments in Ophthalmology, 1983, 7: 13.

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