Pfeiffer's syndrome (Rudolf Arthur Pfeiffer)
A congenital syndrome characterized by craniostenosis resulting from premature cranialseam-synostosis, abnormal skull shape, antimongoloid palpebrae, small nose, narrow maxillae, gothic palate, syndactyly of hands and feet, and broad thumbs and great toes. Normal intelligence. The synonym is variously classified as acrocephalosyndactyly IV (Spranger, Langer, and Wiedemann), acrocephalosyndactyly V (McKusick), and, occasionally, acrocephalosyndactyly VI. Inheritance is autosomal dominant. Variable expresssivity and a high portion of new mutations.
Rudolf A. Pfeiffer in 1964 described a family. The family previously described by Noack in 1959 was erroneously classified as Apert’s syndrome.
- M. Noack:
Ein Beitrag zum Krankheitsbild der Akrozephalosyndaktylie (Apert).
Archiv für Kinderheilkunde, Stuttgart, 1959, 160: 168-171.
- R. A. Pfeiffer:
Dominante erbliche Akrocephalosyndaktylie.
Zeitschrift für Kinderheilkunde, Berlin, 1964, 90: 301-320.
- J. W. Spranger, L. O. Langer, H. R. Wiedemann:
Bone dysplasia. Philadelphia, Saunders, 1974, p. 261.
- V. A. McKusick:
Mendelian inheritance in man: Catalogs of Autosomal Dominant, Autosomal Recessive and X-Linked Phenotypes.
5th edition. Baltimore, The Johns Hopkins University Press, 1978, p. 8, No. 10160.