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Molecular-pathogenetic classification of genetic disorders of the skeleton


  • Andrea Superti-Furga,

    Corresponding author
    • Division of Metabolism and Molecular Pediatrics, University Children's Hospital, Steinwiesstr. 75, CH-8032 Zürich, Switzerland.
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    • Andrea Superti-Furga is Professor of Pediatrics at the University of Zurich and Leitender Arzt at the Division of Metabolism and Molecular Diseases of the University Children's Hospital in Zurich, Switzerland. Dr. Superti-Furga is involved in clinical care, laboratory diagnosis, teaching, and research in the area of metabolic and genetic pediatrics.

  • Luisa Bonafé,

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    • Luisa Bonafé, a graduate and board-certified pediatrician from the University of Padova, Italy, has a strong research interest in amino acid and biopterin disorders and in skeletal dysplasias and is currently a postgraduate fellow with Dr. Superti-Furga.

  • David L. Rimoin

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    • David L. Rimoin is the Steven Spielberg Chairman of Pediatrics, Director of the Medical Genetics–Birth Defects Center and Director of the International Skeletal Dysplasia Registry at Cedars-Sinai Medical Center and Professor of Pediatrics and Medicine at UCLA School of Medicine in Los Angeles, California. He is currently President of the American College of Medical Genetics Foundation and was past President of the American Society of Human Genetics, the American College of Medical Genetics, and the American Board of Medical Genetics.


Genetic disorders of the skeleton (skeletal dysplasias and dysostoses) are a large and disparate group of diseases whose unifying features are malformation, disproportionate growth, and deformation of the skeleton or of individual bones or groups of bones. To cope with the large number of different disorders, the “Nosology and Classification of the Osteochondrodysplasias,” based on clinical and radiographic features, has been designed and revised periodically. Biochemical and molecular features have been partially implemented in the Nosology, but the rapid accumulation of knowledge on genes and proteins cannot be easily merged into the clinical–radiographic classification. We present here, as a complement to the existing Nosology, a classification of genetic disorders of the skeleton based on the structure and function of the causative genes and proteins. This molecular–pathogenetic classification should be helpful in recognizing metabolic and signaling pathways relevant to skeletal development, in pointing out candidate genes and possible therapeutic targets, and more generally in bringing the clinic closer to the basic science laboratory and in promoting research in this field. © 2002 Wiley-Liss, Inc.