A community of human malformation syndromes involving the müllerian ducts, distal extremities, urinary tract, and ears


  • Leonard Pinsky

    1. Cell Genetics Laboratory, The Lady Davis Institute for Medical Research, Jewish General Hospital and the Departments of Pediatrics and Biology, McGill University, Montreal, Quebec, Canada
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    • Supported by grant MT-2830 from the Medical Research Council of Canada.

  • This paper is dedicated to Professor Josef Warkany for his past and continuing contributions to the science of human teratology.


“Syndrome fever” is a term used to characterize the prolific publication of “new” human congenital malformation syndromes in the last decade. One way to manage syndrome fever, that is, to assimilate and utilize efficiently its valuable informational by-product, is to create nosologic communities composed of member-syndromes which have close general and specific phenotypic similarities. The phenotypic community approach to human mal-formation syndrome taxonomy is applicable to rare, family-specific syndromes, to well-known syndromes that have achieved firm, independent identities, and to mixtures of the two. A community of six syndromes, four of them apparently rare, is proposed. All share uterovaginal malformation, but neither this type nor any other single type of malformation is essential for a syndrome to merit membership in the community. Five of the six syndromes have distinc-tive and and/or foot malformations. Four of the six share malformations of the urinary tract; in a fifth urinary incontinence probably reflects a subtle dysmorphism. Three of the six syndromes have anomalies of the aural appa-ratus; in two this involves an association between severe renal dysgenesis and middle ear ossicle defects. The sharing of similar malformations involving several systems suggests that the respective causes of the syndromes act on the same developmental pathway(S). All six syndromes have occurred in a familial distribution; four are probably determined by major mendelian genes. Malformations of the axial skeleton are rare, but those of the distal extremities are common, in the familial syndromes belonging to the group. The reciprocal tendency is found in sporadic occurrences of severe uterovaginal dysgenesis (Rokitansky-Küster-Hauser syndrome) and in those with so-called nonspecific female pseudohermaphroditism.